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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Clinical expression of leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
American Journal of Human Genetics, Volume 81, No. 2, Year 2007
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Description
Leber hereditary optic neuropathy (LHON) is due primarily to one of three common point mutations of mitochondrial DNA (mtDNA), but the incomplete penetrance implicates additional genetic or environmental factors in the pathophysiology of the disorder. Both the 11778G→A and 14484T→C LHON mutations are preferentially found on a specific mtDNA genetic background, but 3460G→A is not. However, there is no clear evidence that any background influences clinical penetrance in any of these mutations. By studying 3,613 subjects from 159 LHON-affected pedigrees, we show that the risk of visual failure is greater when the 11778G→A or 14484T→C mutations are present in specific subgroups of haplogroup J (J2 for 11778G→A and J1 for 14484T→C) and when the 3460G→A mutation is present in haplogroup K. By contrast, the risk of visual failure is significantly less when 11778G→A occurs in haplogroup H. Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder. © 2007 by The American Society of Human Genetics. All rights reserved.
Authors & Co-Authors
Hudson, Gavin
United Kingdom, Newcastle
Newcastle University
Carelli, Valerio
Italy, Bologna
Alma Mater Studiorum Università Di Bologna
United States, Los Angeles
Doheny Eye Institute
Spruijt, Liesbeth
Netherlands, Nijmegen
Radboud University Medical Center
Gerards, Mike
Netherlands, Maastricht
Universiteit Maastricht
Achilli, A.
Italy, Pavia
Università Degli Studi Di Pavia
Pyle, Angela
United Kingdom, Newcastle
Newcastle University
Elson, Joanna L.
United Kingdom, Newcastle
Newcastle University
Howell, Neil
Unknown Affiliation
La Morgia, Chiara
Italy, Bologna
Alma Mater Studiorum Università Di Bologna
Huoponen, Kirsi A.
Finland, Turku
Turun Yliopisto
Savontaus, Marja Liisa
Finland, Turku
Turun Yliopisto
Nikoskelainen, Eeva K.
Finland, Turku
Turun Yliopistollinen Keskussairaala
Salomão, Solange Rios
Brazil, Sao Paulo
Universidade Federal de São Paulo
Belfort Junior, Rubens
Brazil, Sao Paulo
Universidade Federal de São Paulo
Yu-Wai-Man, Patrick Yu Wai
United Kingdom, Newcastle
Newcastle University
de Coo, René F.M.
Netherlands, Rotterdam
Erasmus Mc
Horvàth, Rita
Germany, Munich
Ludwig-maximilians-universität München
Zeviani, Massimo
Italy, Milan
Foundation Irccs Neurological Institute C. Besta
Smeets, Hubertus Julius Maria
Netherlands, Maastricht
Universiteit Maastricht
Torroni, Antonio
Italy, Pavia
Università Degli Studi Di Pavia
Chinnery, Patrick Francis
United Kingdom, Newcastle
Newcastle University
United Kingdom, Newcastle
Wellcome Trust Centre for Mitochondrial Research
Statistics
Citations: 353
Authors: 21
Affiliations: 13
Identifiers
Doi:
10.1086/519394
ISSN:
00029297
Research Areas
Cancer
Genetics And Genomics