genetics and fertility

Understanding How Genetics Play a Major Part in Fertility & Reproduction

Understanding how genetics plays a major part in fertility and reproduction is very important. Many couples are completely unaware that their fertility issues and inability to conceive may in fact be from genetic, or hereditary issues that have not been screened for.

When it comes to fertility and being able to conceive more and more couples are now struggling. Some of this is due to increased stress levels, poor diet and lifestyle, increase alcohol consumption, lack of preconception care and many other factors. However, one key area that is not often talked about, or even known to many is genetic factors, chromosomal factors and DNA issues passed on through our sperm and eggs.

Fertility and reproduction is one of the hardest areas of medicine to understand. I am sure many people think that they understand it, but even with years of study and clinical experience, some questions just cannot be answered at this present time. No amount of “Dr Google” searching is going to bring answers for many couples and this is something that needs to be discussed more. Unless you have done years of study and clinical research into fertility and reproduction, you cannot understand the finer details and intricacies of conception. Even then, some answers are just not available to anyone at this present time.

The Reality of Fertility and Reproduction

The reality of fertility and reproduction is that just because an egg and sperm are put together, it does not mean that an embryo will be formed. Even if an embryo is formed, it does not mean that it will become a baby. Even if an embryo meets scientific grading categories (grade 1-4 etc), it still does not mean that the inner make up of that embryo is chromosomally viable. Even if the embryo is tested to be chromosomally viable (via PGD/PGS testing), it still does not mean that the embryo will go on to become a baby. This is the hardest thing for people to get their heads around and why we need to discuss this more. Quite simply, something that is supposed to seem easy really isn’t that easy at all. Reproduction and having babies is not as easy as many have led us to believe.

Chromosomal Errors

One of the biggest factors in embryos not developing, or IVF cycles failing, or even natural conception not working is chromosomal errors at the embryo stage. Even if both parents have normal karyoptype (46XX and 46XY) it does not mean that they cannot produce random chromosomal and genetic errors in their sperm and eggs. The thing is, the older we get, the more these errors occur and the harder it is to fall pregnant. An abnormal embryo with and abnormal number is cells is called aneuploidy. When an embryo has the correct number of cells it is called euploidy. Unfortunately, many couples are producing high numbers of aneuploidy embryos and this is why they are struggling to conceive. As mentioned before, just because the outer features of the embryo look fine, it does not mean the inner workings (chromosomes and DNA) are fine.

The Important of Genetic Screening

Speaking about chromosomal and genetics, when couples are struggling with fertility and being able to conceive, one of the biggest factors I see is that couples are not being screened properly. This is screening on all aspects, not just the standard blood tests and fertility investigations. Many couples that come to see me for help for fertility often believe that they have had everything done, yet most times I am finding that they have only had the basics done. Many couples have not even had basic genetic screening for karyoptype and genetic issues such as cystic fibrosis.

Understanding the Coding on DNA

Understanding the coding on the DNA is now having a profound practical impact on the practice of medicine today. This is particularly important in the area of infertility. There is increasing knowledge that there is frequently a major genetic component both from nuclear and mitochondrial DNA in couples with infertility or subfertility.

Significant examples include:

  • The demonstration of microdeletions on the Y chromosome in men with low sperm count (oligozoospermia)
  • The identifications of mutations in the Cystic Fibriosis gene in those with congenital bilateral absence of the vas deferens
  • The high rate of aneuploidy in normally dividing embryos after fertilisation in older infertile couples
  • The presence of an expanded triplet repeat in the androgen receptor in some men with low sperm counts.

Without seeing someone who has all this  knowledge of the molecular and genetic basis  of fertility many couples will continually have troubles trying to fall pregnant and may possible end up with repeated failed cycles in IVF too. There is so much to genetics and it is often overlooked in all areas of fertility these days. No amount of “Dr Google” is going to give you this information, nor will it give you understanding, unless you have a degree in reproductive medicine, or genetics. I do understand that people get desperate for answers, but unfortunately, sometimes these answers cannot be found by an internet search.

Other Genetic Factors Affecting Fertility

There are also other genetic conditions and chromosomal errors such as balanced translocations, reciprocal translocations, Robertsonian translocations, Turner’s syndrome, Kleinfelter’s syndrome, fragile X syndrome and many more. Again, many who are struggling with fertility issues and struggling to have a baby may not have even had some of these genetic screening done.

When I see couples, I also recommend advanced genetic carrier screening which tests for several hundred more genetically inherited mutations. Many fertility clinics do not recommend couples to do advanced carrier screening. Given that 1 in 22 couples are at risk of a hereditary gene mutation, it is really important to screen couples properly and not just do the basics.

Mutations in Genes

A mutation is a change in the information encoded in the DNA sequence. Such a change may result in the production of an abnormal protein, produce a truncated protein, reduce the levels of that protein, or cause it not to be made at all.

A single gene genetic disorder is one where an alteration in the DNA sequence of only one of the genomes 40,000 genes has resulted in significant pathology and disorders that affect the human body.

Such disorders include cystic fibrosis, Duchenne muscular dystrophy, Huntington disease and familial breast cancer. Although individually these disorders are rare, as a group, they are numerous and therefore important.

Cystic fibrosis, one of the most common autosomal recessive conditions affecting people of Northern European decent has a population incidence of 1 in 2,500.

To date up to 6,000 single gene disorders have been characterized and it is estimated that 14 per 1,000 people suffer from one of these conditions. A person who inherits a mutation in a single gene will carry that mutation in every cell of their body.

Mutations occur when a cell is dividing. The task of correctly copying 6 billion “bits” of information, the number of base pairs in the human genome, is huge and mistakes do occur. It has been established experimentally that these mistakes occur and are uncorrected in one in one billion base-pairs copied (or about 6 errors per cell division).

When a mutation occurs in the coding DNA sequence of a gene it may be a polymorphism with no effect or it may significantly impair the gene function. All mutations are thereafter inherited. Inherited or germ line mutations must be present in the egg or sperm. They are twice as common in sperm as eggs.

 Male Sperm Quality is a Big Part of Fertility Issues

Before everyone jumps to the conclusion that all failed cycles are related to women’s egg quality, I need to make it absolutely clear that men are half of the fertility equation. They are not exempt when conception does not take place, or an IVF cycle fails. As mentioned above many genetic mutations are twice more likely to be present in sperm than eggs. Up to 85% of miscarriage and chromosomally defective embryos are related to chromosomal errors that men have passed through their sperm.

Women’s eggs do have more errors as they get older, and eggs are not as viable as they get older, but men’s sperm are exactly the same. If men are not having their sperm quality managed while trying to fall pregnant, there is half your problem then and there. This is why all men are treated and managed on all levels of their health when doing my fertility program.

Sperm quality is variable and each time a man ejaculates the quality of that sperm can vary by as much as 20% at a given time. This is why men need to be continually looking after their health and sperm health while trying to conceive. Men are actually the bigger part of conception not taking place and we need to talk about this more. Men are not exempt when it comes to making babies.

Creating Life

Life does not begin with conception, but is simply a continuum from living cell to living cell with genetic information being transmitted through the genome from one generation to the next. A failure to achieve this is recognised as infertility.

At conception we are a single fertilized cell resulting from the fertilization of the egg by the sperm. The sperm contributes one copy of nuclear DNA, the egg the other copy and the mitochondrial DNA. That cell proceeds to divide, and over the course of 9 months (32 cell divisions) billions of cells are created, with specialized functions, forming complex tissues and organs that constitute the working human body. That first cell therefore must contain all the information necessary for embryological development, growth from fetus and then growth through to adult life. Without all the right coding and necessary information, life does not get created. This is also the answer to why so many couples are having problems trying to conceive.

The Importance of Seeing a Reproductive Medicine Expert

There are many factors to fertility and reproduction and why it is important that couples see someone who is a fertility expert. The fertility profession is largely unregulated and many who are now practicing in that profession are not experts at all. Many actually do not have further training and qualifications in reproductive medicine and are some of the reason why people are struggling to fall pregnant.

Final Word

Lastly, while we cannot change our chromosomes, or change genetic mutations, we can do things to change and improve our cellular DNA. This is why proper preconception care and preconception programs are so important. Everything we do, we ingest, we think etc, can be passed on to our future offspring via sperm and eggs. Health parents produce healthy sperm and eggs, thus producing healthy babies.

If you need help with being able to conceive, give my friendly staff a call and find out how my fertility program may be able to assist you. I use a ‘No Stone Left Unturned’ approach to assisting couples with fertility issues and will look at every aspect of a couples lives, including genetic and hereditary issues, to help them have the best chance of having a baby.

Regards

Andrew Orr

-No Stone Left Unturned

-Master of Reproductive Medicine

-The International Fertility Experts

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Let’s Talk About Ovarian Cancer

Ovarian cancer often has no symptoms in the early stages. Later stages are associated with symptoms, but they can be non-specific, such as loss of appetite and weight loss.

Ovarian cancer often goes undetected until it has spread within the pelvis and stomach. At this late stage, ovarian cancer is more difficult to treat and can be fatal. This is why early intervention is something I am very big on and why we all need to not put things off when they present themselves.

Ovarian cancer is the 9th most common cancer diagnosed in Australian women.

Ovarian cancer is the 6th most common cause of cancer death in Australian women.

The present life expectancy of Australian women is 84 years. One in 77 women will be diagnosed with ovarian cancer before the age of 85.The risk of ovarian cancer increases with age. About 83% of all new cases of ovarian cancer diagnosed in 2005 were in women 50 years or older. The median age of first diagnosis is 64 years.

The five year survival rate for ovarian cancer is 45%.

Symptoms
Most women with ovarian cancer experience at least one symptom of the disease in the year prior to their diagnosis. The following can all be signs of ovarian cancer:

  • Abdominal bloating
  • Abdominal or back pain
  • Appetite loss or feeling full quickly
  • Changes in bowel habit
  • Urinary frequency or incontinence
  • Pain during intercourse
  • Menstrual irregularities
  • Unexplained weight loss or gain
  • Indigestion or heartburn

Why is bloating a sign of ovarian cancer?

Ascites (a build-up of fluid in the abdomen and a sign of advanced ovarian cancer) is probably the major cause of bloating in women with ovarian cancer. Therefore, waiting for bloating as a key ‘sign’ is too late and we want to encourage all women to ‘know your normal’ and if this changes, to seek medical help. This is why any changes in the body need to be looked into. Many may think that they are reacting to foods, or they have a gut issue etc, but it may actually be the signs of ovarian cancer. This is why proper investigations and proper differential diagnosis by a trained professional is so important.

Family history
While having a family history of ovarian cancer increases a woman’s risk of developing ovarian cancer, 90-95 per cent of all ovarian cancers occur in women who do not have a family history.

Key factors associated with increased risk include:

  • Multiple relatives on the same side of the family affected by breast cancer (male or female) or ovarian cancer
  • Younger age at cancer diagnosis in relatives
  • Relatives affected by both breast and ovarian cancer
  • Relatives affected with bilateral breast cancer
  • An increase in age
  • Inheriting a faulty gene (called a gene mutation) that increases the risk of ovarian cancer
  • Being Caucasian (white) and living in a Western country with a high standard of living having few or no full-term pregnancies
  • Starting your menstrual cycle early (before the age of 12) and beginning menopause after the age of 50
  • Taking hormone therapy (HT) after menopause. Some studies suggest this may increase your risk of developing ovarian cancer, but others don’t make this connection
  • Never having taken the contraceptive pill – the pill has been found to reduce the risk of cancer of the ovaries and uterus
  • Only five to 10 per cent of all ovarian cancers are associated with a family history. The risk of developing ovarian cancer increases with the number of affected first degree relatives (parents, siblings, children)
  • Ashkenazi Jewish ancestry.

Diagnosis for Ovarian Cancer

There is currently no evidence to support the use of any test, including pelvic examination, CA125 or other biomarkers, ultrasound (including transvaginal ultrasound), or a combination of tests, to screen for ovarian cancer. The only way to properly screen for it is through histology done at the time of laparoscopy.

While CA126 can be a diagnostic, it really has limited value and I have to let people know that it isn’t the best diagnostic at all. 50% of ovarian cancers will actually have a normal CA125 reading.

The cancer council’s guidelines are quite clear about this after numerous research studies show that CA125 has limited diagnostic value for Ovarian cancer. If markers and symptoms are suggestive of Ovarian Cancer, the only true diagnostic is Laparoscopy with histology to really get an accurate diagnosis.

Treatment for Ovarian Cancer

At such an advanced stage, the cancer is more difficult to cure. As ovarian cancer advances, cells from the original tumor can spread (metastasize) throughout the pelvic and abdominal regions and travel to other parts of the body. Cancer cells are carried through the body through lymph vessels and the bloodstream.

If a woman is suspected of having ovarian cancer, she should be referred to a gynaecological oncologist. Research shows survival for women with ovarian cancer is improved when their surgical care is directed by a gynaecological oncologist.

Treatment for ovarian cancer usually involves surgery and chemotherapy. It may also include radiotherapy.

Usually your healthcare practitioner, or GP, will generally arrange for initial tests and looks after your general health as well as coordinating with your specialists. Depending on your treatment you will be seen by several specialists, such as: medical oncologist, radiation oncologist, radiologist, gynaecological pathologist, cancer nurses and other health professionals such as a dietitian, physiotherapist, social worker and a counsellor.

With any condition that affects the body, we often get early warning signs and this is why early intervention and making sure you are investigated and management properly is so important.

Regards

Andrew Orr

-Women’s and Men’s Health crusader

-No Stone Left Unturned

-The Women’s Health Experts

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Let’s Talk About Iron

Let’s talk about iron. After my recent post about me having haemochromatosis and the importance of regular venesection and proper screening, I thought we should talk more about iron.

We need to not only talk about high iron and genetic disorders, such as haemochromatosis, but also talk about iron deficiency and proper screening and management of that as well.

In this video post I talk high iron, low iron and everything in between. I also talk about genetics and auto-recessive genetic pathways and the parental mode of inheritance.  This also goes for many other health conditions we see in people.

Please remember that early intervention, early screening, early treatments and early management is the key to any disease state.

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Western Diet Permanently Alters the Immune System & Alters Gene Expression

For many years we have been trying to explain to people how their diet is a major factor in their current health and how a poor diet can actually cause expression of many inflammatory disease states within the body. There is now research which shows how the western diet permanently alters the immune system and alters gene expression.

New research has shown that our immune system responses to the Western diet very similar to how it reacts to infection by dangerous bacteria. The research was led by the University of Bonn in Germany and published in the journal Cell.

One of the disturbing results of the study is that the longer we consume a high GI, highly refined foods, and Western diet, that it can make the immune system become hyper-responsive to inflammation triggers. We know that a diet in highly processed foods and refined carbohydrates actually causes high inflammation in the body.

The longer we eat this way, these long-term changes may contribute to type 2 diabetes, arteriosclerosis, inflammatory bowel conditions, cancers,  gynaecological conditions,  and several other conditions wherein inflammation is thought to play a part, and which have been linked to consumption of a highly refined Western based diet.

The Western diet altered gene expression

The new research showed that just after just 1 month, there were changes throughout the bodies that are similar to the strong inflammation reactions that occur in bacterial infections. The researchers showed that an unhealthy high GI/highly refined diet led to increases in certain immune cells, which were a sign of inflammation and an infection like process. They also found that the Western diet had switched on many genes in the body that would also express many disease states and inflammatory processes in the body.

The researchers concluded that  findings highlight the dramatic impact that the wrong kind of food can have, and that they have important implications for society, especially for children who grow up with this highly inflammatory based diets and consume them longer.

The researchers concluded that adults and children have a choice of what they eat every day. We should enable everyone, especially children,  to make conscious decisions regarding their dietary habits. The new research also highlighted that dietary habits and the foundations of what a healthy diet is, need to become more prominent in our education system and it needs to start at a younger age. We also need to re-educate adults on what a healthy diet is as well

At my clinic, we can help people to know what a healthy diet is and this education is also passed onto people we help with inflammatory disease states.

We always promote a Primal/Low GI/grain free diet to all our patients so that they can be healthier, have less inflammation in their bodies and live longer and happier lives.

Regards

Dr Andrew Orr

-No Stone Left Unturned

-Women’s and Men’s Health Expert

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Endometriosis Awareness Month March 2019

Dr Andrew Orr has an honest and open talk about Endometriosis Awareness Month and also about the disease itself.

Dr Andrew Orr talks about the facts, the myths and what women with endometriosis go through on a daily basis.

He also discussed that there is help out there and what is needed in a multi-modality (team like) approach to care and ongoing management of the disease

Lastly, he wants every women, and man, to know that Period Pain IS NOT Normal and that women do not need to suffer in silence. There is always help out there and you just have to find the right people who will care, listen and help you in every aspect that you need.

Dr Andrew Orr has a special interest in Endometriosis and does research and lecturers about this horrible disease that affects 1 in 10 women world wide. If you do need help with period pain, or endometriosis and the associated symptoms, please give his clinic a call. Please do not suffer in silence alone. There is help out there. Dr Andrew Orr’s motto is “No Stone Left Unturned” and he uses this to assist all his patients.

Take care

Regards

Dr Andrew Orr

-No Stone Left Unturned

-Women’s and Men’s Health Expert

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Endometriosis ‘Is Not’ An Autoimmune Disease

There are many statements made about endometriosis and many of them are not factual. This goes for the statement that Endometriosis is an autoimmune disease. In this article I will explain why this statement is false, and not true, and the reasoning behind it.

Everyday I get people telling me all sorts of facts and fictions they have heard on Dr Google. As I always say to people, Dr Google is not a reliable source of health information, unless it is from peer reviewed medical sites. Even then these sites are pretty much restricted to the general public.

Many people are looking for the miracle cure for endometriosis, or the holy grail of causes of it, and why wouldn’t you if this was affecting your life. I know from personal experience with health issues, I do want to know what the cause is and how to treat it.

But like so many conditions many people face each day, sometimes there is no answer just yet. Sometimes we don’t have all the answers and that is just how it is. When this is the case for a disease, I always tell my patients to not get caught up so much on the cause, but rather do the known treatments and management to get better. This is what really matters the most. Plus, like any disease, we need to look at treating the individual and not treat the masses.

Many diseases like endometriosis need a multi-modality approach to treat them effectively and this how I treat my patients and why I have so much success with treating endometriosis. It is about employing the right treatments and treatments that work.

Endometriosis does not fit the classification of an Autoimmune Disease. 

What we do know is that endometriosis is made worse through diet and lifestyle and external influences. We also know that internally there are many things that exacerbate endometriosis too. Behind it all, it is an inflammatory based disease. Any inflammation in the body makes it worse. Plus, endometriosis itself can inflame the body too.

Endometriosis is very much an ‘autoimmune like’ disease, because inflammation is a major driving factor, but it isn’t an autoimmune disease. Endometriosis does not fit the classification of an autoimmune disease as it does not produce auto-antibodies. We also know that endometriosis is normal tissue growing in abnormal areas. Again not producing auto-antibodies.

What we do know

We know that retrograde menstruation is a big factor for some women, but we also know that retrograde menstruation isn’t a factor for others. What we do know is that estrogen is a big driving factor and that endometriosis is estrogen driven. It isn’t from estrogen dominance, or estrogen excess either. What we do know about endometriosis, is that like autoimmune diseases, it is also passed on via genetic and hereditary factors. But again, endometriosis is not an autoimmune disease and does not fit the classifications of an auto-immune disease at this stage.

Like many diseases we get in our body, we often have other disease states expressed at the same time and can be purely coincidental. Some can come from hereditary factors and people are just predisposed to getting this diseases and when the body is inflamed, it just causes this other diseases to be expressed too. If someone has an autoimmune disease and also has endometriosis, this does not mean that endometriosis is autoimmune. There are many women who have endometriosis and who do not have autoimmune diseases as well.

Inflammation is a driving factor 

If a woman has an autoimmune disease at the same time as endometriosis, this is purely coincidental, or it is another hereditary factor that may have been passed onto them through their parent. It needs to be treated independently and not as part of endometriosis. It is all inflammation at the end of the day, so addressing inflammation and immune response will not only help the secondary autoimmune disease, but it will also help the endometriosis.

I’ve talked about the facts and fictions of endometriosis before and we really cannot say endometriosis is an autoimmune disease, because there is no credible, or conclusive research to back that up at this stage.There maybe in the future, but at this stage there is not, so we cannot say that endometriosis is an autoimmune disease.

Is the immune system & inflammation a part of endometriosis? … It sure is

Is endometriosis and autoimmune disease? … It isn’t at this stage

Hope this helps to shed some more light on this disease that affects so many women around this world. Hopefully one day soon we will have all the answers and we can end the horrible world of endometriosis.

If you want to find out more about how endometriosis is not an autoimmune disease, have a read of this great article by A/Prof Jason Abbott from Endometriosis Australia’s page. Click Here

Regards

Andrew Orr

-No Stone Left Unturned

-The Endometriosis Experts

-The Women’s Health Experts

-“Period Pain is Not Normal”

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Von Willebrand Disease

Von Willebrand Disease (VWD) is the most common inherited bleeding disorder diagnosed in women with heavy abnormal uterine bleeding, due to a coagulation defect.

Women with this disease may also have some tendency to bruising/nosebleeds in childhood but it will be when they get there first period that deficiency in von Willebrand factor – an essential protein required for both normal platelet function and as a co-factor to Factor VIII in the clotting cascade, most frequently presents.

A parent with VWD has a 50 per cent chance of passing the affected gene on to each child. VWD can affect both men and women. Sometimes genes mutate or change and can skip generations. Sometimes a child may have VWD but there was no family history of the condition. This means that VWD can occur in any family.

Women with this condition will present with excessive or prolonged bleeding with all other investigations normal (e.g. structural abnormalities are excluded). The diagnosis of Von Willebrand’s disease is by means of a coagulation screen and vWF antigen testing.

History behind Von Willebrand’s disease

Von Willebrand’s disease is named after Dr Erik Adolf von Willebrand, a Finnish paediatrician. In 1924, a 5-year-old girl was brought to the hospital in Helsinki where von Willebrand worked. He diagnosed her with a bleedingdisorder which he recognised was different from the haemophilia which was initially suspected. He subsequently assessed 66 members of her family and in 1926 first described the disease and its inheritance.

Von Willebrand’s disease is the commonest coagulation defect in humans-but is also seen in dogs (notably Doberman Pinschers),and more rarely in swine, cattle, horses, and cats.

Symptoms of Von Willebrand’s Disease

Many people with the disease do not have any symptoms. Those who do may find that they:

  • have lots of nosebleeds
  • bruise easily
  • have heavy menstrual (period) flow
  • bleed excessively from the mouth.
  • The presence in your menstrual flow of blood clots greater than 1 inch (2.5 centimeters) in diameter
  • The need to change your menstrual pad or tampon more often than hourly
  • The need to use double sanitary protection to control menstrual flow
  • Symptoms of anemia, including tiredness, fatigue or shortness of breath

There are three main types of VWD:

  • Type 1
  • Type 2
  • Type 3.

These can be broken down into further categories. The most common are types 2A and 2B.

Complications of von Willebrand disease may include:

  • Anaemia– Women who experience heavy menstrual bleeding are more at risk of iron deficiency anaemia.
  • Swelling and pain-If abnormal bleeding occurs in the joints or soft tissue, swelling and severe pain can result.
  • Death from bleeding –Rarely, someone with Von Willebrand’s Disease may experience uncontrolled bleeding that can be life-threatening and needs emergency medical attention.

There are hormones and other medications that can help with the acute bleeding that can present with VWD.

Although Von Willebrand’s Disease is the most common pathology, other bleeding disorders including thrombocytopaenia and haemophilias should be considered. Consultation with a haematologist should be considered when a coagulation defect is diagnosed, or when the history suggests a clotting disorder. The main aim is to to manage the underlying disease but to also help with effective menstrual regulation (usually with combined contraceptive pills).

Regards

Andrew Orr

-Women’s and Men’s Health Advocate

-No Stone Left Unturned

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Genetics & Gene Sequencing May Be The Path To a Cure for Endometriosis

I have always said that the biggest inroads to the management and treatment of endometriosis will come from the area of genetics. I’ve also said that if there is going to be a cure, this will be the pathway that is comes from.

We know that there are hereditary components to endometriosis and that if a parent, or someone in the family tree has the disease, it is likely to be passed onto the offspring in the gene pool of that family tree.

Research published in the New England Journal of Medicine has revealed that Gene sequencing has found a set of genetic mutations which may help to develop molecular tests to distinguish between mild and aggressive types of endometriosis.

This is a big step forward into finding out more about endometriosis and developing better medical treatments and management strategies. Hopefully one day it will also lead to a cure for women with this horrible disease.

Endometriosis is a painful disorder in women which ‘endometrial like’ tissue grows outside of the womb, most commonly into the abdomen, and will affect at least 1 in 10 women. It can spread to every part of the body.

Many women with endometriosis will experience symptoms of abdominal pain, migraines, pain with sex, ovulation pain, IBS like symptoms, UTI like symptoms (without infection present), menstrual cramps, abdominal distension and possible issues with infertility.

Endometriosis can affect both physical and mental health in sufferers. While a portion of women with endometriosis get pain and associated symptoms, it needs to be noted that a significant portion of women with endometriosis are asymptomatic (no symptoms) and would not even know that had it, until they are investigated for fertility purposes.

This discovery helps moves towards developing genetic based systems for classifying endometriosis to sort out which forms of the disorder needs more aggressive treatment. Presence of the unusual set of mutations suggest that while origins are rooted in normal endometrial cells mutations change their fate, the mutations identified have links to genetic mutations found in some forms of cancer. Abnormal endometriosis tissue growth will often spread throughout the abdominal cavity but rarely becomes cancerous with exception to a few cases when the ovaries are involved.

The close links to cancer have always baffled scientists, as endometriosis does behave like a cancer the way it spreads, and now they have found some of the same mutations found in cancers, in some of the endometriosis lesions. But again, endometriosis rarely turns cancerous, except if it does spread to the ovaries, but there have been some studies to suggest links that women with endometriosis may be at more risk of endometrial cancer.

In this research, the research scientists analysed the samples looking for mutations or abnormal changes in DNA and filtered out normal variations in genes which commonly occur. At least one or more mutations in endometriosis tissue that were not present in their normal tissue, in which the number and type of mutations varied per endometriosis lesion and each woman.The types of mutations found were among the most common mutated genes found, which are all known for DNA repair, controlling cell growth, and cell invasion.

The researchers are working on additional studies to investigate whether patient outcomes correlate with the mutations. Testing which can sort lesions into less or more aggressive has potential to help decide how to monitor progression as well as control and treat the endometriosis. It may also be possible to develop new treatments which use agents that block gene related pathways specific to an individual’s disease.

Women are normally prescribed anti-hormonal treatments, which block estrogen to shrink lesions. Endometriosis is estrogen driven and is not from estrogen dominance, as some people would have women believe.

Even small amounts of estrogen can drive the disease and cause the expression of the lesions. When endometriosis occurs on the ovaries and forms a large cyst, or endometrioma, it is typically removed as it increases the risk of developing ovarian cancer in some women.

I honestly believe (in my opinion only) that Endometriosis is a genetic condition passed down through the parental mode of inheritance and is much the same as other hereditary genetics issues such as haemachromatosis etc.

I also believe that the closest disease we can compare endometriosis to is cancer, as endometriosis spreads very much the same and can cause inflammation and pain in many part of the body. I do think we need to start talking about endometriosis being more like a benign form of cancer, in the way that it behaves and spreads through the body and the havoc it causes on the body too.

While this new development is not a cure for endometriosis, it is providing new insights into the disease, which will hopefully one day see a cure in the not so distant future. Lets help end the silence for women with this horrible disease by getting more awareness out there and let us hope that the cure will eventually come one day soon.

Regards

Andrew Orr
-No Stone Left Unturned
-Period Pain IS NOT Normal
-The Endometriosis Experts

References:

    1. https://www.nejm.org/doi/10.1056/NEJMoa1614814 –  (Cancer-Associated Mutations in Endometriosis without Cancer)
    2.  https://www.ncbi.nlm.nih.gov › pmc › articles › PMC6447774 – the genetic profile of endometriosis
    3. https://imb.uq.edu.au/article/2017/03/spotlight-endometriosis-research-long-game-help-our-daughters
    4. Stefansson H, Geirsson RT, Steinthorsdottir V, Jonsson H, Manolescu A, Kong A, Ingadottir G, Gulcher J, Stefansson K. Genetic factors contribute to the risk of developing endometriosis. Hum Reprod. 2002;17:555–559. doi: 10.1093/humrep/17.3.555. [PubMed]
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