Abstract
Two MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) patients with diabetes mellitus (DM), and their family members are described clinically and genetically. The probands have the following features in common; normal early development, short stature, deterioration of intellectual ability, convulsions, cardiac conduction defect, sensorineural hearing loss, cortical blindness, and hemiparesis. Biochemical tests showed high levels of lactate and pyruvate in the blood and cerebrospinal fluid. Muscle biopsy showed ragged-red fibers. Molecular genetic analysis of both patients revealed that they had an A-to-G substitution at nucleotide position 3243 of the mitochondrial DNA in a heteroplasmic fashion. From these clinical and molecular genetic data they were diagnosed as having MELAS. In addition, fasting blood glucose levels were also high and they were diagnosed as having insulin-dependent DM. Some of the maternal family members in both cases also had insulin-dependent DM and several clinical symptoms of MELAS. DM and clinical features of MELAS were transmitted exclusively in the maternal line. In these cases, DM and MELAS might be a clinical manifestation of the same metabolic defect.
References
Dec 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·F SangerA R Coulson
Mar 1, 1977·Archives of Neurology·Z H HartR Ayyar
Apr 1, 1992·Nature Genetics·S W BallingerD C Wallace
Apr 1, 1992·Annals of Neurology·E CiafaloniC Garcia
Jun 1, 1991·Lancet·S R HammansA E Harding
Dec 1, 1991·Human Genetics·C EnterK D Gerbitz
Jan 1, 1991·Acta Neuropathologica·Y KageyamaK Miyoshi
Jan 31, 1991·Biochemical and Biophysical Research Communications·M TanakaT Ozawa
Oct 1, 1991·Neurology·E CiafaloniS DiMauro
Oct 21, 1991·Biochimica Et Biophysica Acta·Y GotoS Horai
Dec 13, 1990·Nature·Y GotoS Horai
Jun 15, 1990·Cell·J M ShoffnerD C Wallace
Nov 1, 1990·Neurology·L EviatarS DiMauro
Dec 31, 1990·Biochemical and Biophysical Research Communications·Y KobayashiS Ohta
Jan 29, 1988·Science·R K SaikiH A Erlich
May 18, 1989·The New England Journal of Medicine·C T MoraesS Servidei
Mar 25, 1989·Lancet·I TrounceS Marzuki
Dec 1, 1989·Annals of Neurology·I J HoltJ A Morgan-Hughes
Feb 25, 1988·Nature·I J HoltJ A Morgan-Hughes
Feb 15, 1986·Lancet·C CamaschellaM Ferrari
Jan 1, 1988·European Neurology·Y TanabeH Nakajima
Sep 1, 1988·Neurology·M ZevianiL P Rowland
Jun 1, 1985·Annals of Neurology·S DiMauroD C DeVivo
Oct 1, 1984·Annals of Neurology·S G PavlakisL P Rowland
Nov 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·R E GilesD C Wallace
Jul 21, 1983·The New England Journal of Medicine·J Egger, J Wilson
Citations
Jun 1, 1996·Annals of Neurology·K OhnoV Fatourechi
Jun 1, 1994·Journal of Bioenergetics and Biomembranes·E A SchonS DiMauro
Jun 1, 1994·Journal of Bioenergetics and Biomembranes·E R McCabe
Nov 26, 1998·Clinical Endocrinology·C N HuangL M Chuang
Aug 1, 1995·Clinical Endocrinology·C Y YangJ K Lee
Feb 1, 1995·Diabetic Medicine : a Journal of the British Diabetic Association·J C Alcolado, A W Thomas
Dec 1, 1995·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·F DegoulF Chapon
Apr 16, 1998·Journal of Medical Genetics·H OnishiS Satoh
Mar 12, 1999·Annual Review of Medicine·D K Simon, D R Johns
Oct 10, 1998·Japanese Circulation Journal·A TakedaN Takeda
Jun 1, 1997·Biological Psychiatry·H OnishiK Kosaka
Dec 7, 2000·Journal of Child Neurology·P Balestri, S Grosso
Aug 1, 1996·Stroke; a Journal of Cerebral Circulation·J M GilchristS Shanske
Jun 1, 2014·The Journal of Clinical Endocrinology and Metabolism·Kristen KobalyAndrea Dunaif
Nov 1, 1995·Acta Neurologica Scandinavica·M S DamianW Dorndorf
Jul 17, 2001·Journal of Biomedical Science·R H HsiehY H Wei
Jan 20, 2021·The Journal of Clinical Investigation·Marjan Gucek, Michael N Sack