Insulin resistance associated with maternally inherited diabetes and deafness

Metabolism: Clinical and Experimental
S GebhartD C Wallace

Abstract

Maternally inherited diabetes and deafness (MIDD) is a form of diabetes associated with mutation of mitochondrial DNA (mtDNA) that occurs in 1% to 2% of individuals with diabetes. Understanding the clinical course and abnormalities in insulin secretion and action in affected individuals should allow better understanding of how this genetic defect alter glucose metabolism. We report the clinical course of three individuals with mtDNA mutations and deafness. Subjects no. 1 and 2 had diabetes not yet requiring insulin therapy, and subject no. 3, the son of subject no. 2, had normal glucose tolerance. Defective oxidative phosphorylation (OXPHOS) based on OXPHOS enzymology of skeletal muscle biopsy of subjects no. 1 and 2 showed activity of less than 5% of the tolerance level in complex III for subject no. 1 and in complexes I, I + III, and IV for subject no. 2. Assessing insulin secretion using insulin response to intravenous glucose and insulin sensitivity based on minimal model analysis of an insulin-modified frequently sampled intravenous glucose tolerance test (FSIGT), first-phase insulin secretion was abnormal in subjects no. 1 and 2 and normal in subject no. 3 (AUC, 57, 93, and 1,235 pmol/L, respectively). In contrast, all th...Continue Reading

References

Dec 1, 1990·The Journal of Clinical Endocrinology and Metabolism·S WelchL S Phillips
Feb 1, 1988·Journal of Neurology, Neurosurgery, and Psychiatry·K R Poulton, S Nightingale
Feb 1, 1995·Diabetes Care·M WalkerD M Turnbull
Apr 1, 1995·Kidney International·J M ShoffnerW E Mitch
Jan 1, 1995·Diabetes·S S BraithwaiteC Hofmann
Jul 1, 1994·Diabetes Care·A KanamoriY Yajima
Aug 1, 1994·Nature Genetics·S W BallingerD C Wallace
Apr 1, 1994·Diabetologia·J C AlcoladoA H Barnett
Apr 7, 1994·The New England Journal of Medicine·T KadowakiY Goto

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Citations

Nov 8, 2002·Diabetic Medicine : a Journal of the British Diabetic Association·J PoultonD Simmons
Jun 13, 2020·Frontiers in Endocrinology·Jennyfer MartínezCelia Quijano
Mar 15, 2003·American Journal of Physiology. Endocrinology and Metabolism·Mary A SelakRebecca A Simmons
Mar 31, 2007·International Journal of Clinical Practice·S UppalA P Coatesworth
Mar 5, 2002·Diabetic Medicine : a Journal of the British Diabetic Association·J C AlcoladoR Gill-Randall
Jan 2, 2007·Pancreas·João Eduardo SallesRegina S Moisés
Feb 26, 2008·Diabetic Medicine : a Journal of the British Diabetic Association·R MurphyA T Hattersley
Oct 2, 2001·American Journal of Medical Genetics·D C Wallace
Feb 13, 2001·The Journal of Nutrition·C D Berdanier

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