Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: Focusing on mitochondrial DNA depletion syndrome

2014 ◽  
Vol 56 (2) ◽  
pp. 180-187 ◽  
Author(s):  
Taro Yamazaki ◽  
Kei Murayama ◽  
Alison G Compton ◽  
Canny Sugiana ◽  
Hiroko Harashima ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Respiratory Chain ◽  
Molecular Diagnosis ◽  
Mitochondrial Respiratory Chain ◽  
Mitochondrial Dna Depletion ◽  
Mitochondrial Dna Depletion Syndrome ◽  
Respiratory Chain Disorders ◽  
Mitochondrial Respiratory

scholarly journals Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders

2004 ◽  
Vol 1659 (2-3) ◽  
pp. 121-128 ◽  
Author(s):  
David R. Thorburn ◽  
Canny Sugiana ◽  
Renato Salemi ◽  
Denise M. Kirby ◽  
Lisa Worgan ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Molecular Diagnosis ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Disorders ◽  
Mitochondrial Respiratory

Biochemical and molecular aspects of human mitochondrial respiratory chain disorders

1990 ◽  
Vol 18 (4) ◽  
pp. 517-519 ◽  
Author(s):  
J. MARK COOPER ◽  
ANTHONY H. V. SCHAPIRA ◽  
IAN J. HOLT ◽  
ANTONIO TOSCANO ◽  
ANITA E. HARDING ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Molecular Aspects ◽  
Respiratory Chain Disorders ◽  
Mitochondrial Respiratory

Epidemiology of Pediatric Mitochondrial Respiratory Chain Disorders in Northwest Spain

2006 ◽  
Vol 34 (3) ◽  
pp. 204-211 ◽  
Author(s):  
Manuel Castro-Gago ◽  
Manuel O. Blanco-Barca ◽  
Yolanda Campos-González ◽  
Joaquín Arenas-Barbero ◽  
Elena Pintos-Martínez ◽  
...  
Keyword(s):  
Respiratory Chain ◽  
Mitochondrial Respiratory Chain ◽  
Respiratory Chain Disorders ◽  
Mitochondrial Respiratory

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.

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