The Mitochondrial DNA Mutation ND6*14,484C Associated with Leber Hereditary Optic Neuropathy, Leads to Deficiency of Complex I of the Respiratory Chain

1995 ◽  
Vol 215 (3) ◽  
pp. 1001-1005 ◽  
Author(s):  
R.J. Oostra ◽  
M.J.M. Vangalen ◽  
P.A. Bolhuis ◽  
E.M. Bleekerwagemakers ◽  
C. Vandenbogert
Keyword(s):  
Mitochondrial Dna ◽  
Respiratory Chain ◽  
Optic Neuropathy ◽  
Complex I ◽  
Leber Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Hereditary Optic Neuropathy

scholarly journals Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

2021 ◽  
Vol 12 ◽  
Author(s):  
Martin Engvall ◽  
Aki Kawasaki ◽  
Valerio Carelli ◽  
Rolf Wibom ◽  
Helene Bruhn ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Respiratory Chain ◽  
Optic Neuropathy ◽  
Complex I ◽  
Novel Mutation ◽  
Mitochondrial Respiratory Chain ◽  
Leber Hereditary Optic Neuropathy ◽  
Mild Defect ◽  
Hereditary Optic Neuropathy ◽  
Mitochondrial Respiratory

Leber hereditary optic neuropathy (LHON) is a mitochondrial disease causing severe bilateral visual loss, typically in young adults. The disorder is commonly caused by one of three primary point mutations in mitochondrial DNA, but a number of other rare mutations causing or associated with the clinical syndrome of LHON have been reported. The mutations in LHON are almost exclusively located in genes encoding subunits of complex I in the mitochondrial respiratory chain. Here we report two patients, a mother and her son, with the typical LHON phenotype. Genetic investigations for the three common mutations were negative, instead we found a new and previously unreported mutation in mitochondrial DNA. This homoplasmic mutation, m.13345G>A, is located in the MT-ND5 gene, encoding a core subunit in complex I in the mitochondrial respiratory chain. Investigation of the patients mitochondrial respiratory chain in muscle found a mild defect in the combined activity of complex I+III. In the literature six other mutations in the MT-ND5 gene have been associated with LHON and by this report a new putative mutation in the MT-ND5 can be added.

Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy

1992 ◽  
Vol 42 (2) ◽  
pp. 173-179 ◽  
Author(s):  
Danping Zhu ◽  
Effrosini P. Economou ◽  
Stylianos E. Antonarakis ◽  
Irene H. Maumenee
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Type I ◽  
Leber Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Hereditary Optic Neuropathy

Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy

1991 ◽  
Vol 87 (6) ◽  
pp. 725-727 ◽  
Author(s):  
Carla Carducci ◽  
Vincenzo Leuzzi ◽  
Massimo Scuderi ◽  
Anna Maria De Negri ◽  
Corrado Balacco Gabrieli ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Leber Hereditary Optic Neuropathy ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Italian Family ◽  
Hereditary Optic Neuropathy
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