No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON

FEBS Letters

Zerres, K.¹  Obermaier-Kusser, B.²  Rietchel, M.¹  Gerbitz, K.-D.²  Paprotta, A.² 

[1] Institut für Humangenetik der Universität Bonn, Bonn, Germany;Institute für Klinische Chemie und Diabetes-Forschung, Krankenhaus München-Schwabing, München, Germany

关键词: Mitochondrial DNA;    Leber's hereditary optic neuropathy;    Mutation;    Restriction endonuclease;    Mismatch primer;    bp;    base pairs;    nt;    nucleotide;    LHON;    Leber's hereditary optic neuropathy;    ND;    complex I = mitochondrial NADH dehydrogenase (EC 1.6.99.3);   

DOI  :  10.1016/0014-5793(92)81482-2

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

In order to investigate possible synergistic influences of different mtDNA mutations on penetrance and severity of Leber's hereditary optic neuropathy (LHON), a large German LHON pedigree is characterized with respect to 10 different mutations associated with LHON. All members of the family carry three different mtDNA mutations (at nucleotide 4,216, 11,778 and 13,708) in a homoplasmic form, regardless of whether or not they are clinically affected. Testing for another 7 mutations reveals negative results in all family members. Hence, the variable disease expression of the family members cannot be explained by varying combinations of LHON-associated mtDNA mutations.

【 授权许可】

Unknown