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11 February 2007
Breakthrough
in understanding type-2 diabetes as key genes identified
The
most important genes associated with a risk of developing type-2
diabetes have been identified, scientists report today in a new
study.
The
research, published is the first time the genetic makeup of any
disease has been mapped in such detail. It should enable
scientists to develop a genetic test to show an individual their
likelihood of developing diabetes mellitus type 2, commonly known
as type-2 diabetes.
The
researchers identified four loci, or points on individuals'
genetic maps, which corresponded to a risk of developing the
disorder. The scientists, from Imperial College London, McGill
University, Canada, and other international institutions, believe
their findings explain up to 70% of the genetic background of
type-2 diabetes.
Genomic
organization of SLC30A8 gene.
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In addition, one of the
genetic mutations which they detected might further explain the
causes behind type-2 diabetes, potentially leading to new
treatments. The research revealed that people with type-2
diabetes have a mutation in a particular zinc transporter known
as SLC30A8, which is involved in regulating insulin secretion.
Type-2 diabetes is associated with a deficiency in insulin and
the researchers believe it may be possible to treat it by fixing
this transporter.
Professor
Philippe Froguel, one of the authors of the study from the
Division of Medicine at Imperial College London, said: "The
two major reasons why people develop type-2 diabetes are obesity
and a family link. Our new findings mean that we can create a
good genetic test to predict people's risk of developing this
type of diabetes.
"If
we can tell someone that their genetics mean they are
pre-disposed towards type-2 diabetes, they will be much more
motivated to change things such as their diet to reduce their
chances of developing the disorder. We can also use what we know
about the specific genetic mutations associated with type-2
diabetes to develop better treatments."
The
scientists reached their conclusions after comparing the genetic
makeup of 700 people with type-2 diabetes and a family history of
the condition, with 700 controls. They looked at mutations in the
building blocks, called nucleotides, which make up DNA.
There
are mutations in around one in every 600 nucleotides and the
scientists examined over 392,000 of these mutations to find the
ones specific to type-2 diabetes. The mutations are known as
single-nucleotide polymorphisms.
The
researchers confirmed their findings by analyzing the genetic
makeup of a further 5,000 individuals with type-2 diabetes and a
family history of the disorder, to verify that the same genetic
mutations were visible in these individuals.
Professor
David Balding, co-author on the study from Imperial's Division of
Epidemiology, Public Health and Primary Care, said: "Until
now, progress in understanding how genes influence disease has
been painfully slow. This study is one of the first large studies
to report results using the new genome-wide technology that
governments and research charities have invested heavily in
during the past few years.
"Our
research shows that this technology can generate big leaps
forward. The task now is to study the genes identified in our
work more intensively, to understand more fully the disease
processes involved, devise therapies for those affected and to
try to prevent future cases," he added.
This
work was funded by Genome Canada, Genome Quebec, and the Canada
Foundation for Innovation. Cohort recruitment was supported by
the Association Francaise des Diabetiques, INSERM, CNAMTS, Center
Hospitalier Universitaire Poitiers, La Fondation de France and
industrial partners.
Source
/ Credit: Imperial College London
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