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11/21/2024 04:46:17 pm

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New Genome Study Can Help Solving Gene-Disease Links

DNA

(Photo : Reuters) Studies conducted by an International Group of Scientists imply that the DNA present in the human body undergoes changes seasonally.

Scientists have identified previously unknown gene mutations that could be involved in a range of ailments, from heart disease to Alzheimer's.

Creating so-called "knock out" genes in laboratory mice is standard scientific practice to understand the role a gene plays in a disease. This is, however, the first time scientists have had access to such a large library of human knock-out genes in a living population of people. They have used an entire country, Iceland, as a genetics laboratory.

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The researchers embarked on a massive gene-sequencing program involving 2,636 Icelanders, and because of something known as the founder effect. Most of the country's inhabitants can trace their lineage back to a small group of founding fathers that came to Iceland from Europe around 1,100 years ago. Researchers found they could deduce the distribution of the genetic variants likely in the remaining 325,000 Icelanders.

Researchers discovered that more than a thousand Icelanders who took part in the study - about 7.7 per cent of the study population - had both copies of at least one of their genes knocked out in a way that would almost certainly mean that the gene in question had no function at all.

Non-vital genes involved in the sense of smell appeared to be more susceptible to being knocked out than the genes involved in brain activity, the study found.

Study leader Kari Stefansson, CEO of deCODE Genetics/Amgen, said it allowed them to identify genetic mutations linked to Alzheimer's, atrial fibrillation, liver disease, thyroid disorders and other conditions.

"Basically, what we have is a fairly detailed insight into the DNA sequences of an entire nation. We now have an insight into our fellow countrymen who have had a gene knocked out," Dr Stefansson said.

Older studies have mined large databases of genetic information to find genetic culprits behind diseases like cancer and Alzheimer's. The study of a genetically-unique population such as that found in Iceland, however, is a golden opportunity to identify even more genetic changes that could also be important contributors to disease, the researchers say.

It could give way to a more complete understanding of the genetic roots of health problems and could lead to new drugs and treatments for them, Stefansson says.

The detailed study was published as a series of four scientific papers in the journal Nature Genetics.

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