Sorry, this video has expired

Queensland researcher identifies a killer gene

Updated June 14, 2013 22:52:00

Griffith University Professor Ian Hamilton-Craig has identified a potentially fatal genetic mutation which causes extremely high cholesterol, and is more common than type one diabetes.

Source: 7.30 Queensland | Duration: 5min 39sec

Topics: genetics, brisbane-4000, sa


MATT WORDSWORTH: It's a condition more common than Type One Diabetes, and yet many people still don't know about it. Genetic high cholesterol can lead to a heart attack and death if it's not detected soon enough. A Queensland researcher identified the origins of the dangerous gene while working as a cardiologist in South Australia two decades ago. Now he's embarking on a study which could have national and international implications. Francene Norton reports.


FRANCENE NORTON: The Barossa is a picturesque valley steeped in tradition. One of Australia's oldest wine regions it draws food and wine buffs from around the world. But it's also a place which has long harboured a deadly mystery that's had the locals talking.

JIM MITCHELL, FARMER: It's one of those things. We've been obviously living in the valley all our life and dad's always talked about certain families and the way they always fell over and died at young ages with dicky tickers. And I've noticed the same thing happening with the same families.

FRANCENE NORTON: Professor Ian Hamilton-Craig is based on the Gold Coast, but he's embarked on a new study in the Barossa Valley to identify carriers of a special mutation of the familial hypercholesterolemia gene FH Morocco which causes extremely high cholesterol.

PROFESSOR IAN HAMILTON-CRAIG, GRIFFITH UNIVERSITY SCHOOL OF MEDICINE: We used to think that FH affected perhaps 1 in 500 of the population; now it's more like 1 in 300, which is actually more common than Type One Diabetes. And as you know Type One Diabetes we think is quite common everyone knows about it insulin requiring diabetics. However it's often unrecognised undiagnosed and not treated adequately.

FRANCENE NORTON: Professor Hamilton-Craig stumbled upon the gene cluster while working as a cardiologist in Adelaide in the 1990's.

PROFESSOR IAN HAMILTON-CRAIG: I was referred a patient from the Barossa who had very high cholesterols and when I looked into his family history he told me he had seven brothers, six of whom had high cholesterols as well. Father died at 56 of heart attack, grandfather died at 43 of a heart attack, uncles and aunts the same story.

FRANCENE NORTON: He discovered that the gene mutation dated back to the arrival of the first group of German Silesian migrants to Australia 175 years ago.


PROFESSOR IAN HAMILTON-CRAIG: Silesian now the border of Poland, Czechoslovakia and East Germany, which many centuries ago was much larger.


FRANCENE NORTON: Since then it's spread far and wide.

PROFESSOR IAN HAMILTON-CRAIG: They went not only to South Australia, but also to Victoria, northern Victoria around Melbourne, Albury-Wodonga area, Southeast Queensland and a large population went to America, US and also in South Africa.

FRANCENE NORTON: John Semmler is a sixth generation Silesian who's had high cholesterol for many years.

JOHN SEMMLER, SILESIAN DESCENDENT: I thought hello, various branches of my family come from these areas that he's been referring to. So there is a possibility, when I look back through the limited amount of family history that I know of, there are occasions where people have died before their allocated three score year and 10 some in their 40s, some in their 50s. My brother actually had a triple by-pass at age 49.

FRANCENE NORTON: Though not related Tony Semler is another Silesian descendent and has the FH gene.


TONY SEMLER, GENE CARRIER: This is myself and all my brothers here myself here we all, as far as I'm aware, have high cholesterol and it's just part of the family.

FRANCENE NORTON: Through early detection and treatment, his life is back to normal.

TONY SEMLER: But you can't control it by just what you eat and so on. It had to be done with a medication. And it has brought it down from, I don't know it was up around 11 or 12 when I first started off, on the courses and it's now down to around about 4 or maybe even lower.

FRANCENE NORTON: Professor Hamilton-Craig says genetic high cholesterol is present from birth and there are some signs to look out for.


PROFESSOR IAN HAMILTON-CRAIG: Well you can see little white rings on the outside of the eyes in people with very high cholesterol. And also you can see bumps at the back of the knuckles sometimes. So here are the bumps which move up and down as you move your fingers just like these are. So I ask patients to play the piano and you see them moving up and down.

FRANCEN NORTON: Genetic cholesterol turned out to be much closer than he realised. For colleague Maxine Hughes, the Professor's knowledge proved life-saving.

MAXINE HUGHES, FH GENE CARRIER: It was funny. I was actually fixing a printer in his office and he just stopped me and said could I move over by the window he wanted to look at my eyes. And it was like really? But he did and just fronted me then with so how high is your cholesterol and how long has it been high?

FRANCENE NORTON: They're now hoping the Barossa Family Heart Study will save others too.

MAXINE HUGHES: It worries me. I mean as a mum, and knowing. I was in my 30s, my brother had his first heart attack at 40, I had a heart attack in my 40s. You know you want to make sure that they're not going that path. They're young but they're not invincible. I also want I've got grandchildren.

PROFESSOR IAN HAMILTON-CRAIG: I think the ultimate aim is to increase awareness of genetic cholesterol, particularly FH in the community as a whole, not only in the Barossa Valley but everywhere.