Pregnancy
Researchers zero in on genetic variant tied to miscarriages
Scientists led by researchers from Rutgers University-New Brunswick have identified a gene variant directly tied to early miscarriages in women.
The discovery of the variant is linked to accelerated reproductive ageing, a condition producing high numbers of abnormal eggs that can lead to miscarriages.
The findings could alert women to the potential for early infertility and guide them in their approach to reproductive planning and fertility treatment, scientists said.
Karen Schindler is an author of the study and a professor in the Department of Genetics in the Rutgers School of Arts and Sciences.
Schindler said: “Knowledge of the precise genetic landscape that causes egg abnormalities in women has long been limited.
“This work represents a significant step forward in our understanding of the underlying genetics and provides the deepest validation yet of a candidate variant for causation.”
Reporting their results in the journal Proceedings of the National Academy of Sciences, the scientists pinpointed the variant – which differs from the non-mutated version by only a single amino acid – in the kinesin protein gene KIF18A.
This mutated protein, they found, speeds up the ageing process of eggs in younger women with the variant, ultimately diminishing their fertility.
Successful female reproduction, Schindler said, is highly dependent on creating eggs of good quality.
Miscarriages are often caused because women produce eggs with aneuploidy, an abnormal number of chromosomes.
The possibility of producing eggs with aneuploidy increases with age.
Because the eggs of the women with the variant age more rapidly than normal, they produce a higher number of eggs with aneuploidy.
This condition is known as “high embryonic aneuploidy.”
Rutgers Department of Genetics Professor Jinchuan Xing, an author on the study, led a team that started by conducting a comprehensive computational analysis of the genes of women with high embryonic aneuploidy.
To do so, team members accessed data maintained in a biobank at an in vitro fertilization clinic and sought patterns in maternal DNA sequences collected from patients.
The analysis showed that many of the women with abnormal eggs carried the mutation in the kinesin protein gene KIF18A.
Subsequent studies of mice engineered to contain the genetic variant, indicated that the mice produced more abnormal eggs at an earlier than normal age.
Leelabati Biswas is the study’s co-first author and a student in the university’s joint M.D.-Ph.D. program in the Department of Genetics and the Rutgers Robert Wood Johnson Medical School.
The researcher said: “From this, we can say that this is more than a correlation; it’s a causal relationship.
“The results gave us a powerful validation of our computational data.”
Biswas and Schindler believe the conclusions of the study are directing researchers toward further discovery.
They can imagine finding more variants associated with aneuploidy, providing more connections and, ultimately, deepening knowledge.
Biswas said: “This is a first step.
“We’re heading in a direction where we may be able to give women more opportunities for precision medicine, to better inform them, using targeted genetic information for reproductive treatments.”
A woman who wants to have children and knows she possesses this genetic variant that will produce age-related infertility prematurely may opt to have children earlier or freeze her eggs while she is younger, Schindler said.
“If you know your genetic risk, you will know your outcomes are going to be better if you start at age 28, rather than 32.
“That could make a huge difference in your success.”
Pregnant women are among the first groups offered the NHS flu vaccine this winter, which has been updated to better match the subclade K strain.
Schoolchildren are also being prioritised and, like pregnant women, can receive the vaccine from September because they can catch and spread flu easily.
Protecting them also helps others, including younger siblings and grandparents.
Other eligible groups, including people aged 65 and over, will be able to receive a free NHS flu vaccine from October and should receive an invitation by phone or post.
Dr Amanda Doyle from NHS England said: “Last year’s flu season came early and was made worse by a new variant, which had a major impact for patients and put enormous pressure on urgent and emergency care services across the country.
“With the NHS experiencing its busiest summer on record, staff have started preparing for this winter earlier than ever – and with services already under significant pressure, it is vital that everyone offered the vaccine comes forward.”
Last winter’s flu season began more than a month earlier than usual as a new mutated strain circulated.
The strain was sometimes referred to as “Super flu”, although this is not a medical term and does not mean the virus is harder to treat. The name reflected that people had yet to build up immunity against it.
Flu vaccines are updated each year to better match the influenza viruses expected to circulate. These viruses continually mutate, so experts must predict how they are likely to change.
This winter’s vaccine includes changes intended to provide a better match for subclade K.
It remains unclear when flu will begin circulating widely this winter or how severe the season will be. Experts often look at flu activity in southern hemisphere countries such as Australia and New Zealand for indications of how the UK season could develop.
Their flu season peaks in July or August. Australia has recorded fewer cases than last year, while New Zealand has experienced high numbers.
Everyone is at risk of catching flu, regardless of age or how fit and healthy they are.
Doyle said: “Flu can really knock you for six, and for some children and pregnant women it can mean becoming seriously ill or ending up in hospital.”
The flu vaccine cannot give you flu. Instead, it helps the body know how to fight the virus.
Children aged two and over receive a nasal spray version, while adults receive an injection. One dose is needed ahead of winter.
Free NHS flu vaccines are available through pharmacies, GPs and schools. People who are not eligible for a free vaccination can pay around £10 to £20.
Schoolchildren and pregnant women can receive a free NHS flu vaccine from September onwards.
From October, free vaccination will also be available to children aged two or older who have not yet started school, people aged 65 and over, those with certain long-term health conditions, care home residents and carers of older or disabled people, including those receiving a carer’s allowance.
It will also be available to people living with someone who has a weakened immune system and those experiencing homelessness or staying in a homeless hostel or night shelter.
More adults will also be offered vaccination against respiratory syncytial virus (RSV), a virus that attacks the lungs, this winter.
From September, adults with certain pre-existing health conditions, such as chronic lung disease, will be invited for the RSV vaccine when they turn 65 rather than waiting until 75.
Four leading cardiovascular health groups have agreed new guidance for healthcare professionals assessing patients with suspected heart attacks.
Historically, some less common forms of heart attack, which evidence shows affect women far more than men, have been classified as less important, with treatment and care often worse as a result.
Experts said women had been receiving less effective treatments that did not always target the specific cause of their heart attack and could even make them more unwell.
The changes were announced in Munich on the opening day of the annual congress of the European Society of Cardiology (ESC).
Professor Bryan Williams, chief scientific and medical officer of the British Heart Foundation, said: “This is a landmark moment, a radical shift in how we define and diagnose heart attacks worldwide which will transform people’s care.
“For decades, women have missed out on accurate diagnoses and treatment.
“This focus on finding less common causes of heart attacks, which predominantly affect women, should help to change that. It could be life-changing for huge numbers of women in the UK and worldwide.”
The new guidance upgrades three types of heart attack that can be up to 10 times more common in women and are often caused by childbirth, exercise and emotional stress.
The most serious cases, previously known as “type 1” and now classed as “primary” heart attacks, had previously prioritised those caused by a clot blocking blood flow to the heart.
Other forms can involve reduced blood flow for different reasons, including the tightening or tearing of coronary arteries. These can be more likely to be missed or treated less urgently.
The guidance also introduces a lower diagnostic threshold for women based on levels of troponin, a protein released into the blood when the heart is injured and damaged.
Previously, women were expected to meet the same troponin threshold as men to receive a diagnosis.
Williams said the streamlined heart attack categories would also help patients understand the cause of their heart attack and what comes next.
The three upgraded types are coronary artery spasm, coronary embolism and spontaneous coronary artery dissection (SCAD).
Coronary artery spasm involves the tightening of an artery, which can deprive the heart muscle of blood and oxygen. It can be caused by emotional stress, exercise or extreme cold.
Coronary embolism occurs when a blood clot or fatty deposit travels to a coronary artery and causes a blockage.
SCAD is caused by a tear in a coronary artery. Around 80 per cent of cases occur in women, and it often happens during or soon after pregnancy.
Professor Nicholas Mills, a cardiologist at the University of Edinburgh who led the international taskforce behind the guidance, said it was “the first time that we’ve had a truly global approach to aligning how we diagnose what is probably the most important diagnosis there is”.
He said: “It kills so many people, and we’ve never got everyone together around the world to agree how we’re going to describe it, classify it, explain it to our patients.
“Our job now is to implement this as widely as possible. It’s just as relevant for the UK as it is for any other country around the world. It is a revolution. It’s going to make care better for patients.”
Mills said there had been “unintended systematic bias against women”, including through the use of the key blood test for diagnosing heart attacks at an average level, which picks up all men but misses some women.
He said: “This is used for all types of heart attack in every emergency department in the world, and we want to make sure that it’s used correctly.”
The guidance was drawn up by the ESC, the American College of Cardiology, the American Heart Association and the World Heart Federation.
KOVE Medical has raised €1.7 million to support first-in-human studies of an implantable device designed to reduce preterm birth risk after foetal surgery.
The University of Zurich spin-off is developing a device designed to close defects left by surgical instruments following fetoscopy, a minimally invasive procedure performed inside the womb.
Fetoscopies can treat life-threatening conditions before birth but require surgical instruments to pass through the uterine wall and amniotic sac.
This can weaken the protective membrane, causing fluid leakage or rupture and often leading to preterm birth.
KOVE Medical said in a statement on LinkedIn: “This is a crucial step forward for our company, and we are incredibly grateful for the strong support and trust from our syndicate of visionary angel investors.”
KOVE Medical says its device closes the defect at the end of the procedure, stabilising the membrane and preventing complications. The aim is to make in-utero interventions safe enough to become a standard method of care.
The company plans to use the seed funding to reach first-in-human studies, a key milestone for a medical device seeking regulatory approval.
The CHF1.6m round was backed by a syndicate of angel investors.
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