Single-Stranded Conformational Polymorphism Analysis of the Mitochondria! Glycerol Phosphate Dehydrogenase Gene in NIDDM

Michael J MacDonald; Laura J Brown; Noaman M Hasan; Markus Stoffel; Diana G Dills

doi:10.2337/diacare.46.10.1660

Brief Genetics Reports

Single-Stranded Conformational Polymorphism Analysis of the Mitochondria! Glycerol Phosphate Dehydrogenase Gene in NIDDM

Michael J MacDonald,
Laura J Brown,
Noaman M Hasan,
Markus Stoffel and
Diana G Dills

University of Wisconsin Children's Diabetes Center Madison, Wisconsin
Laboratory of Metabolic Diseases, Rockefeller University New York, New York
Division of Endocrinology, University of Wisconsin Medical School Madison, Wisconsin

Address correspondence and reprint requests to Dr. Michael J. MacDonald, Medical Science Center, Rm. 3459, 1300 University Ave., Madison, WI 53706.

Diabetes 1997 Oct; 46(10): 1660-1661. https://doi.org/10.2337/diacare.46.10.1660

Abstract

Because the activity of mitochondrial glycerol phosphate dehydrogenase (mGPD) in the pancreatic β-cell is normally among the highest of the body, but is low in the pancreatic islets of numerous rodent models of NIDDM and is reported to be low in the islets of the few humans studied with NIDDM (1,2), it has been questioned whether mGPD might be a diabetes candidate gene. Linkage studies have failed to find an association between mGPD and NIDDM in Caucasians (3) and Mexican Americans (4), which suggests that mutations in mGPD are not a common cause of NIDDM. Since NIDDM is a multifactorial and heterogeneous disorder, it is possible that abnormalities in many individual genes influencing reactions that are important for the maintenance of normal glucose homeostasis in the β-cell will be found in a low percentage of individuals with NIDDM. With this idea in mind, conditions for using single-stranded conformational polymorphism (SSCP) analysis of the mGPD gene were developed to use this method to screen for mutations in this gene.