Insulin receptor substrate 1 variant linked to GFR

June 1, 2012
Insulin receptor substrate 1 variant linked to GFR
A variant of the human insulin receptor substrate 1 gene, which plays an important role in modulating tissue response to insulin, is significantly associated with glomerular filtration rate, according to a study published online May 22 in Diabetes.

(HealthDay) -- A variant of the human insulin receptor substrate 1 (IRS1) gene, which plays an important role in modulating tissue response to insulin, is significantly associated with glomerular filtration rate (GFR), according to a study published online May 22 in Diabetes.

Farook Thameem, M.D., of the University of Texas Health Science Center in San Antonio, and colleagues conducted a study to identify and characterize genetic variants related to GFR linkage on chromosome 2q37 in 670 samples obtained from 39 large Mexican-American families with . The 2 kb promoter region and exons of the IRS1 gene were sequenced for 32 individuals.

The researchers identified 11 single (SNPs), and eight additional SNPs were selected from HapMap to comprehensively cover the 59-kb-long intron-1. After accounting for trait-specific covariate effects, only the Gly(972)Arg variant of the IRS1 gene was significantly associated with GFR and serum triglyceride levels, with Arg972 carriers exhibiting significantly lower GFR values. The Gly(972)Arg variant contributed to 26 percent of the linkage signal on chromosome 2q37. Insulin-stimulated phosphorylation of IRS1 and Akt kinase were significantly reduced in human mesangial cells expressing the IRS1 mutant Gly(972)Arg.

"Taken together, the data provide the first evidence that in IRS1 may influence variation in GFR, probably through impaired insulin receptor signaling," the authors write.

Explore further: Common invasive test not necessary for kidney disease patients

More information: Abstract
Full Text (subscription or payment may be required)

Related Stories

Common invasive test not necessary for kidney disease patients

September 15, 2011
Equations that estimate a patient's kidney function work as well as direct, invasive measurements, according to a study appearing in an upcoming issue of the Journal of the American Society Nephrology (JASN). This means that ...

Amino acid levels linked to type 2 diabetes risk

May 9, 2012
(HealthDay) -- Levels of some amino acids are associated with glycemia and insulin resistance and predict the development of type 2 diabetes in men, according to a study published online May 2 in Diabetes.

Recommended for you

Scientists reverse diabetes in a mouse model using modified blood stem cells

November 15, 2017
Researchers at Boston Children's Hospital have successfully reversed type 1 diabetes in a mouse model by infusing blood stem cells pre-treated to produce more of a protein called PD-L1, which is deficient in mice (and people) ...

Pregnancy-related conditions taken together leave moms—and dads—at risk

November 14, 2017
Research has already shown that women who develop either diabetes or high blood pressure during pregnancy are at risk of getting type 2 diabetes, high blood pressure or heart disease years later. Now, a new study from a team ...

Study reveals how a very low calorie diet can reverse type 2 diabetes

November 9, 2017
In a new study, a Yale-led research team uncovers how a very low calorie diet can rapidly reverse type 2 diabetes in animal models. If confirmed in people, the insight provides potential new drug targets for treating this ...

Targeting a microRNA shows potential to enhance effectiveness of diabetes drugs

November 7, 2017
Over the past 15 years, University of Alabama at Birmingham endocrinologist Anath Shalev, M.D., has unraveled a crucial biological pathway that malfunctions in diabetes.

Researchers link Western diet to vascular damage and prediabetes

October 31, 2017
Could short-term exposure to the average American diet increase one's risk for developing diabetes and cardiovascular disease? According to a recent study funded by the American Heart Association (AHA), researchers from New ...

Researchers design synthetic beta cells to secrete insulin in response to high blood sugar

October 30, 2017
Treating type 1 diabetes and some cases of type 2 diabetes has long required painful and frequent insulin injections or a mechanical insulin pump for insulin infusion. But researchers from the University of North Carolina ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.