Heteroplasmic mitochondrial DNA 3310 mutation in NADH dehydrogenase subunit 1 associated with type 2 diabetes, hypertrophic cardiomyopathy, and mental retardation in a single patient [4]

Diabetes Care

Volumn 26, Issue 3, 2003, Pages 952-953

  Hattori, Yukiko ^a,b   Nakajima, Kazuo ^a   Eizawa, Takayuki ^a   Ehara, Takashi ^b   Koyama, Masamichi ^c   Hirai, Tetsuya ^d   Fukuda, Youji ^d   Kinoshita, Moritoshi ^d  

^a Asama General Hospital   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Komoro Kosei General Hospital   (Japan)

^d Gene Diagnostic Center   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE;

ADULT; CARDIOMYOPATHY; CASE REPORT; CONTROLLED STUDY; DIABETES MELLITUS; ENZYME SUBUNIT; GENE MUTATION; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; LETTER; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MITOCHONDRION; MOLECULAR CLONING; NON INSULIN DEPENDENT DIABETES MELLITUS; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

CARDIOMYOPATHY, HYPERTROPHIC; DIABETES MELLITUS, TYPE 2; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; HUMANS; MALE; MENTAL RETARDATION; MIDDLE AGED; NADH, NADPH OXIDOREDUCTASES; POINT MUTATION;

EID: 0041665000     PISSN: 01495992     EISSN: None     Source Type: Journal    
DOI: 10.2337/diacare.26.3.952     Document Type: Letter

References (3)

1. Nakagawa Y, Ikegami H, Yamato E, Takekawa K, Fujisawa T, Hamada Y, Ueda H, Uchigata Y, Miki T, Kumahara Y, Ogihara T: A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus. Biochem Biophys Res Commun 209:664-668, 1995
2. Hirai M, Suzuki S, Onoda M, Hinokio Y, Ai L, Hirai A, Ohtomo M, Komatsu K, Kasuga S, Satoh Y, Akai H, Toyota T: Mitochondrial DNA 3394 mutation in the NADH dehydrogenase subunit 1 associated with non-insulin-dependent diabetes mellitus. Biochem Biophys Res Commun 219:951-955, 1996
3. Majander A, Huoponen K, Savontaus ML, Nikoskelainen E, Wikstrom M: Electron transfer properties of NADH: ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett 292:289-292, 1991