PMID: 8591702Aug 1, 1995Paper

Clinical and laboratory characteristics in the families with diabetes and a mitochondrial tRNA(LEU(UUR)) gene mutation

Diabetes Research and Clinical Practice
M IwanishiR Toudo

Abstract

We identified three families having a mutation in the mitochondrial tRNA(LEU(UUR)) gene at bp 3243 in 300 patients with non-insulin dependent diabetes mellitus (NIDDM), who had first degree relatives of patients with NIDDM. We found six individuals with diabetes, one with impaired glucose tolerance (IGT), and five with normal glucose tolerance (NGT) among three families. Insulin secretory response to oral glucose load was impaired in six diabetics, but was normal in IGT and NGT, and the proportion of mutant DNA in the blood did not always associate with the severity of glucose intolerance. Furthermore, both gender and obesity may influence the clinical expression of diabetes in three pairs with an age-matched brother-sister relationship with similar high mutation rate in blood samples. Thus, although patients with mitochondrial gene mutation had a high frequency of diabetes, the proportion of mutant DNA evaluated by blood samples may not necessarily indicate glucose intolerance in the members with the mutation. Unidentified factors including gender, aging, and obesity may alter the clinical manifestation of diabetes.

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Citations

Nov 5, 1998·Bioorganic & Medicinal Chemistry·S D TaylorZ Huang
May 31, 2002·Journal of Endocrinological Investigation·J A MaassenH H J P Lemkes
Jan 8, 2016·Human Molecular Genetics·Ian J WilsonPatrick F Chinnery
Feb 26, 2008·Diabetic Medicine : a Journal of the British Diabetic Association·R MurphyA T Hattersley
Jul 13, 2002·American Journal of Medical Genetics·J Antonie Maassen
Apr 1, 1997·Pediatric Clinics of North America·N S Glaser

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