Scientists track down genetic mutation that stops former paracyling champion Tom Staniford storing fat

Researchers at University of Exeter found he is one of just eight people in world to suffer from MDP syndrome

Scientists have finally discovered the single genetic mutation responsible for a cyclist's inability to store fat that has puzzled doctors for years.

Tom Staniford, 23, was born with a rare genetic mutation whereby he is unable to maintain fat below his skin's surface, but his body thinks it is obese, As a result, he has Type 2 diabetes and his hearing has been deteriorating since he was 10 years old.

Mr Staniford was born at normal weight, but throughout his childhood and teenage years lost all the fat around his face and limbs. His condition means he has no natural cushioning on his body, suffers from sore feet, and is at an increased risk of breaking bones in a fall.

He still went on to develop a keen interest in cycling and was crowned the British national paracycling circuit race champion in 2011

But the mystery of Mr Staniford's condition has finally been solved after a research team set about identifying the exact gene mutation responsible. Researchers at the University of Exeter, where he studied law, found that he is one of just eight people in the world to suffer from MDP syndrome, where a single amino acid is missing from an enzyme crucial to DNA replication.

They compared the cyclist's entire genetic code with that of three other patients with the same symptoms. The DNA of their family members was also analysed. Professor Andrew Hattersley, a Wellcome Trust senior investigator at the university's medical school, said: "Tom's condition has been a puzzle to us for many years. We could see the symptoms, including the very unusual case of type 2 diabetes in someone with no obvious body fat, but did not know what was causing them.

"We had to look at 30 million base pairs (chemical components of DNA) in Tom's DNA, and similar numbers in his family members and other patients, to identify the single mutation. This would not have been feasible even a couple of years ago."

Mr Staniford said: "In some ways, identifying the syndrome behind my symptoms shouldn't be important - a name is just a name after all - but it is reassuring to know that there are other people with the condition and that we can lead relatively normal lives.

"What could prove crucial, though, is enabling me to be properly classified in competitions so that I am not competing at an unfair disadvantage against others. I hope to be able to compete for Great Britain in the 2016 Paralympics and this finding could make a real difference to my chances."

Michael Dunn, head of Genetic and Molecular Sciences at the Wellcome Trust, said: "This is a great example of genome sequencing coming of age. Where previously sequencing a patient's entire genome was prohibitively expensive, it is now far more cost effective. As we've seen here, it is no longer just about identifying genes implicated in common diseases, but is about informing diagnoses and prognoses of rare diseases - and, in Tom's case, helping inform his sporting performance."

Arts and Entertainment
tvThe C-Word, TV review
Arts and Entertainment
The Ridiculous Six has been produced by Adam Sandler, who also stars in it
filmNew controversy after nine Native American actors walked off set
Life and Style
The original ZX Spectrum was simple to plug into your TV and get playing on
techThirty years on, the ZX Spectrum is back, after a fashion
Sport
football
Life and Style
ebookNow available in paperback
ebooks
ebookPart of The Independent’s new eBook series The Great Composers
  • Get to the point
Latest stories from i100
Have you tried new the Independent Digital Edition apps?

ES Rentals

    Independent Dating
    and  

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

    iJobs Job Widget
    iJobs General

    Recruitment Genius: Senior Digital Marketing Consultant

    £28000 - £45000 per annum: Recruitment Genius: A Senior Digital Marketing Cons...

    Recruitment Genius: Assistant Stores Keeper

    £16640 - £18500 per annum: Recruitment Genius: An Assistant Stores Keeper is r...

    Recruitment Genius: Claims Administrator

    £16000 - £18500 per annum: Recruitment Genius: This is an excellent opportunit...

    Recruitment Genius: Software Developer - C# / ASP.NET / SQL

    £17000 - £30000 per annum: Recruitment Genius: Developer required to join a bu...

    Day In a Page

    'It was first time I had ever tasted chocolate. I kept a piece, and when Amsterdam was liberated, I gave it to the first Allied soldier I saw'

    Bread from heaven

    Dutch survivors thank RAF for World War II drop that saved millions
    Britain will be 'run for the wealthy and powerful' if Tories retain power - Labour

    How 'the Axe' helped Labour

    UK will be 'run for the wealthy and powerful' if Tories retain power
    Rare and exclusive video shows the horrific price paid by activists for challenging the rule of jihadist extremists in Syria

    The price to be paid for challenging the rule of extremists

    A revolution now 'consuming its own children'
    Welcome to the world of Megagames

    Welcome to the world of Megagames

    300 players take part in Watch the Skies! board game in London
    'Nymphomaniac' actress reveals what it was really like to star in one of the most explicit films ever

    Charlotte Gainsbourg on 'Nymphomaniac'

    Starring in one of the most explicit films ever
    Robert Fisk in Abu Dhabi: The Emirates' out-of-sight migrant workers helping to build the dream projects of its rulers

    Robert Fisk in Abu Dhabi

    The Emirates' out-of-sight migrant workers helping to build the dream projects of its rulers
    Vince Cable interview: Charging fees for employment tribunals was 'a very bad move'

    Vince Cable exclusive interview

    Charging fees for employment tribunals was 'a very bad move'
    Iwan Rheon interview: Game of Thrones star returns to his Welsh roots to record debut album

    Iwan Rheon is returning to his Welsh roots

    Rheon is best known for his role as the Bastard of Bolton. It's gruelling playing a sadistic torturer, he tells Craig McLean, but it hasn't stopped him recording an album of Welsh psychedelia
    Russell Brand's interview with Ed Miliband has got everyone talking about The Trews

    Everyone is talking about The Trews

    Russell Brand's 'true news' videos attract millions of viewers. But today's 'Milibrand' interview introduced his resolutely amateurish style to a whole new crowd
    Morne Hardenberg interview: Cameraman for BBC's upcoming show Shark on filming the ocean's most dangerous predator

    It's time for my close-up

    Meet the man who films great whites for a living
    Increasing numbers of homeless people in America keep their mobile phones on the streets

    Homeless people keep mobile phones

    A homeless person with a smartphone is a common sight in the US. And that's creating a network where the 'hobo' community can share information - and fight stigma - like never before
    'Queer saint' Peter Watson left his mark on British culture by bankrolling artworld giants

    'Queer saint' who bankrolled artworld giants

    British culture owes a huge debt to Peter Watson, says Michael Prodger
    Pushkin Prizes: Unusual exchange programme aims to bring countries together through culture

    Pushkin Prizes brings countries together

    Ten Scottish schoolchildren and their Russian peers attended a creative writing workshop in the Highlands this week
    14 best kids' hoodies

    14 best kids' hoodies

    Don't get caught out by that wind on the beach. Zip them up in a lightweight top to see them through summer to autumn
    Robert Fisk in Abu Dhabi: The acceptable face of the Emirates

    The acceptable face of the Emirates

    Has Abu Dhabi found a way to blend petrodollars with principles, asks Robert Fisk