Discovery of heart attack gene may help diagnose risk within families

An extended family living in the American mid-west state of Iowa has helped scientists to find the first gene that unequivocally causes heart attacks in late middle-age.

The family has an extensive history of heart attacks with the risk highest at about the age of 60. A heart attack becomes almost inevitable in members of the family who have inherited a defect in a gene known to be involved in the formation of blood vessels.

Eric Topol of the Cleveland Clinic Foundation in Ohio said that although the genetic defect has only been found in this family, its discovery could lead to a better understanding of heart attacks in the general population. "This stands out because of its potential impact. It's a great first step towards understanding the basis of coronary artery disease at its genetic roots," Dr Topol said. "We have learnt from other genetic studies that once you get the first gene it starts to unlock the whole story."

Interest in the Iowa family began when one of its members, a 61-year-old man who suffered a heart attack, told doctors that eight of his 10 siblings also had heart attacks at about the same age.

Doctors eventually traced 26 close family members with heart problems. The researchers took blood samples for DNA analysis in the hope of finding a common genetic link to the disorder.

The study found that a region of chromosome 15 - one of the 23 pairs of chromosomes in the human genome - contained a linkage "hotspot" that was known from previous studies to include a gene called MEF2A.

The gene is involved in the repair and maintenance of artery walls and the research team found that the family members who had suffered heart attacks also possessed a deletion mutation within the MEF2A gene.

None of their relatives, or 119 other, unrelated individuals without heart problems, possessed the same defect. This suggested that the defect causes the build-up of fatty deposits inside the vital arteries supplying nutrients to the heart.

Dr Topol said the immediate benefit would be to develop a test that could identify people within the same family who are carrying the defective gene. "There are 100 members of this family. We can tell now in kids aged 10 whether they have the heart attack gene or not."

Other factors, such as smoking, increase the chances of an earlier heart attack for those people carrying the defect but the total avoidance of an attack is not possible, he said. "We're not talking about an increased risk. If you're not run over by a truck or get another disease first, you're going to have a heart attack," he said.

PROMOTED VIDEO
Arts and Entertainment
Peter Griffin holds forth in The Simpsons Family Guy crossover episode
tv
Life and Style
Upright, everything’s all right (to a point): remaining on one’s feet has its health benefits – though in moderation
HealthIf sitting is bad for your health, what happens when you stay on your feet for a whole month?
News
Kristen Stewart and Rupert Sanders were pictured embracing in 2012
people
News
President Obama, one of the more enthusiastic users of the fist bump
scienceBumping fists rather than shaking hands could reduce the spread of infectious diseases, it is claimed
Sport
Mario Balotelli posed for this selfie during AC Milan's 5-1 defeat to Manchester City
sport
Sport
Laura Trott with her gold
Commonwealth Games
Arts and Entertainment
Gal Gadot as Wonder Woman
arts + ents
News
ebookA unique anthology of reporting and analysis of a crucial period of history
News
Bryan had a bracelet given to him by his late father stolen during the raid
people
Sport
France striker Loic Remy
sportThe QPR striker flew to Boston earlier in the week to complete deal
Extras
indybestSpice up your knife with our selection of delicious toppings
Sport
sport
News
Orville and Keith Harris. He covered up his condition by getting people to read out scripts to him
People
Independent
Travel Shop
the manor
Up to 70% off luxury travel
on city breaks Find out more
santorini
Up to 70% off luxury travel
on chic beach resorts Find out more
sardina foodie
Up to 70% off luxury travel
on country retreats Find out more
Latest stories from i100
Have you tried new the Independent Digital Edition apps?
Independent Dating
and  

By clicking 'Search' you
are agreeing to our
Terms of Use.

iJobs Job Widget
iJobs General

ERP Business/ Implementation Analyst

£40000 - £45000 per annum + competitive: Progressive Recruitment: This is an e...

M&E Construction Planner Solihull

£45000 - £55000 per annum + Car, Healthcare, Pensions: Progressive Recruitment...

Senior Java Developer

£45000 - £60000 per annum + competitive: Progressive Recruitment: Leading Sof...

Chemistry Teacher

£90 - £162 per day: Randstad Education Hull: Randstad Education are looking fo...

Day In a Page

A new Russian revolution: Cracks start to appear in Putin’s Kremlin power bloc

A new Russian revolution

Cracks start to appear in Putin’s Kremlin power bloc
Eugene de Kock: Apartheid’s sadistic killer that his country cannot forgive

Apartheid’s sadistic killer that his country cannot forgive

The debate rages in South Africa over whether Eugene de Kock should ever be released from jail
Standing my ground: If sitting is bad for your health, what happens when you stay on your feet for a whole month?

Standing my ground

If sitting is bad for your health, what happens when you stay on your feet for a whole month?
Commonwealth Games 2014: Dai Greene prays for chance to rebuild after injury agony

Greene prays for chance to rebuild after injury agony

Welsh hurdler was World, European and Commonwealth champion, but then the injuries crept in
Israel-Gaza conflict: Secret report helps Israelis to hide facts

Patrick Cockburn: Secret report helps Israel to hide facts

The slickness of Israel's spokesmen is rooted in directions set down by pollster Frank Luntz
The man who dared to go on holiday

The man who dared to go on holiday

New York's mayor has taken a vacation - in a nation that has still to enforce paid leave, it caused quite a stir, reports Rupert Cornwell
Best comedians: How the professionals go about their funny business, from Sarah Millican to Marcus Brigstocke

Best comedians: How the professionals go about their funny business

For all those wanting to know how stand-ups keep standing, here are some of the best moments
The Guest List 2014: Forget the Man Booker longlist, Literary Editor Katy Guest offers her alternative picks

The Guest List 2014

Forget the Man Booker longlist, Literary Editor Katy Guest offers her alternative picks
Jokes on Hollywood: 'With comedy film audiences shrinking, it’s time to move on'

Jokes on Hollywood

With comedy film audiences shrinking, it’s time to move on
It's the best of British art... but not all is on display

It's the best of British art... but not all is on display

Voted for by the British public, the artworks on Art Everywhere posters may be the only place where they can be seen
Critic claims 'I was the inspiration for Blanche DuBois'

Critic claims 'I was the inspiration for Blanche DuBois'

Blanche Marvin reveals how Tennessee Williams used her name and an off-the-cuff remark to create an iconic character
Sometimes it's hard to be a literary novelist

Sometimes it's hard to be a literary novelist

Websites offering your ebooks for nothing is only the latest disrespect the modern writer is subjected to, says DJ Taylor
Edinburgh Fringe 2014: The comedy highlights, from Bridget Christie to Jack Dee

Edinburgh Fringe 2014

The comedy highlights, from Bridget Christie to Jack Dee
Dame Jenny Abramsky: 'We have to rethink. If not, museums and parks will close'

Dame Jenny Abramsky: 'We have to rethink. If not, museums and parks will close'

The woman stepping down as chair of the Heritage Lottery Fund is worried