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- Posted Saturday June 26, 2010
TGen-led studies identify genetic links to kidney disease; kidney failure
Findings released at American Diabetes Association conference in
Orlando
PHOENIX, Ariz. - June 26, 2010 - Researchers at the Translational
Genomics Research Institute (TGen) will make two presentations at
this week's 70th Scientific Sessions of the American Diabetes
Association, June 25-29, in Orlando, Florida.
One presentation describes a DNA study of American Indians in
Arizona, in which a TGen-led team discovered a genetic biomarker
with a significant association to kidney failure.
The study showed "the strongest evidence" for association with End
Stage Renal Disease (ESRD), or kidney failure, in marker
rs13315275, and also found evidence of some lesser associations
between ESRD and four other markers.
"This study could someday lead to better treatment options for
those patients suffering from diabetic kidney disease," said Dr.
Johanna DiStefano, Director of TGen's Diabetes, Cardiovascular and
Metabolic Diseases Division, and lead author of the study's
abstract. "We are conducting ongoing studies to further investigate
these markers, and potentially what they might mean for the
development of new therapeutics."
All five biomarkers are genetic variants of the gene SUCNR1, which
is located in a chromosomal region of the human genome identified
as 3q24-q27. This region has been linked to diabetic nephropathy
(DM), or diabetic kidney disease, in previous studies.
SUCNR1 is a receptor gene that acts on succinate in the kidneys to
mediate the rennin-angiotensin system (RAS), a hormone system that
helps control the body's blood pressure and fluid balance. High
blood pressure can damage the heart, kidneys and exacerbate the
harmful effects of diabetes.
Past studies have shown that diabetes is relatively high among
Arizona's Native American communities.
Effects of gene on diabetic kidney disease is described; more study
'well-justified'
In another TGen study presented Friday, June 25, at the ADA
sessions, researchers initiated an investigation into the ways that
the PVT1 gene impacts development of diabetic kidney disease.
Previous studies have shown an association between PVT1 and kidney
failure in patients with diabetes, both autoimmune (type 1) and
that most commonly caused by excessive weight, poor diet and lack
of exercise (type 2).
In the new study, researchers found that PVT1 was expressed in
mesangial cells, which are specialized cells around blood vessels
in the kidneys, at a rate up to five times higher in conditions of
high glucose (high blood sugar), compared to normal glucose levels.
High blood sugar is a signature symptom of diabetes.
"These findings show that additional study of the role of PVT1 in
diabetic kidney disease is well-justified," said Dr. Lucrecia
Alvarez, a TGen Post-Doctoral Fellow and the first author of the
study's abstract. Dr. Alvarez announced the findings during an oral
presentation at the ADA sessions.
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About TGen
The Translational Genomics Research Institute (TGen) is a Phoenix,
Arizona-based non-profit organization dedicated to conducting
groundbreaking research with life changing results. Research at
TGen is focused on helping patients with diseases such as cancer,
neurological disorders and diabetes. TGen is on the cutting edge of
translational research where investigators are able to unravel the
genetic components of common and complex diseases. Working with
collaborators in the scientific and medical communities, TGen
believes it can make a substantial contribution to the efficiency
and effectiveness of the translational process. TGen is affiliated
with the Van Andel Research Institute in Grand Rapids, Michigan.
For more information, visit: www.tgen.org.
Press Contact:
Steve Yozwiak
TGen Senior Science Writer
602-343-8704
[email protected]
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