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Oct. 28, 2004 -- Specific variations of a gene may cause up to
20% of all type 2 diabetes cases in white people, a finding that
could lead to new treatments.
The gene called PTPN1 (protein tyrosine phosphatase N1) is found
on human chromosome 20, which researchers have long investigated for
diabetes genes.
PTPN1 produces a protein that affects insulin activity in the
body, researchers say. "If you are making a lot of this protein,
your ability to respond to insulin would be blunted, which would
lead to higher glucose (sugar) in your bloodstream. If it is too
high, that's [type 2] diabetes," says senior researcher Donald W.
Bowden, PhD, a professor of biochemistry at Wake Forest University
School of Medicine in Winston-Salem, N.C.
His report appears in the November issue of the journal
Diabetes.
About 35% of whites have this type 2 diabetes-causing variant of
PTPN1; nearly 45% have a protective version of PTPN1. Other
variations seem to be neutral, researchers say.
The newly discovered variations of the PTPN1 gene are possibly a
big contributor to type 2 diabetes among whites -- but not the only
gene responsible for diabetes. Blacks, for example, aren't
susceptible to the effects of this abnormal variant gene, says
Bowden.
His research involved two
studies of 575 white patients who had type 2 diabetes and end-stage
kidney disease. He also studied 810 Hispanic volunteer families,
finding "completely consistent" results as with the white patients,
Bowden says.
The researchers say that based on population estimated risks,
this variant gene may be responsible for the development of type 2
diabetes in approximately 17%-20% of people with the condition.
SOURCES: Bento, J.
Diabetes, Nov. 2004;
vol 53: pp 3007-3012. News release, Wake Forest University School of
Medicine.
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