New MT-ND6 and NDUFA1 mutations in mitochondrial respiratory chain disorders

Mitochondrial respiratory chain disorder (MRCD) is an intractable disease of infants with variable clinical symptoms. Our goal was to identify the causative mutations in MRCD patients.

[1]  F. Bernier,et al.  Diagnostic criteria for respiratory chain disorders in adults and children , 2002, Neurology.

[2]  D. Thorburn,et al.  Mitochondrial disorders: Prevalence, myths and advances , 2004, Journal of Inherited Metabolic Disease.

[3]  R. Rodenburg,et al.  X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy , 2007, Annals of neurology.

[4]  R. Whittaker,et al.  Mitochondrial diseases in childhood: a clinical approach to investigation and management , 2010, Developmental medicine and child neurology.

[5]  L. Wiklund,et al.  Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. , 2003, Neuropediatrics.

[6]  T. Rosenberg,et al.  An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome , 2001, European Journal of Human Genetics.

[7]  Y. Goto,et al.  Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene , 2000, Journal of Human Genetics.

[8]  D. Wallace,et al.  A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. , 2009, Molecular genetics and metabolism.

[9]  P. Chinnery,et al.  Pathogenic Mitochondrial DNA Mutations Are Common in the General Population , 2008, American journal of human genetics.

[10]  N. Yadava,et al.  Development and Characterization of a Conditional Mitochondrial Complex I Assembly System* , 2004, Journal of Biological Chemistry.

[11]  D. Thorburn,et al.  Minimum birth prevalence of mitochondrial respiratory chain disorders in children. , 2003, Brain : a journal of neurology.

[12]  M. Zeviani,et al.  Neurological presentations of mitochondrial diseases , 1996, Journal of Inherited Metabolic Disease.

[13]  G. Attardi,et al.  The mtDNA‐encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme , 1998, The EMBO journal.

[14]  S. Salamat,et al.  Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers. , 2006, American journal of human genetics.

[15]  D. Reddihough,et al.  Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families , 2000, Annals of neurology.

[16]  Sarah Calvo,et al.  Systematic identification of human mitochondrial disease genes through integrative genomics , 2006, Nature Genetics.

[17]  D. Turnbull,et al.  The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. , 2001, Brain : a journal of neurology.

[18]  J. Shoffner Oxidative Phosphorylation Disease Diagnosis , 1999, Annals of the New York Academy of Sciences.

[19]  J. Winn,et al.  Brain , 1878, The Lancet.

[20]  T. Bourgeron,et al.  Clinical presentation of mitochondrial disorders in childhood , 1996, Journal of Inherited Metabolic Disease.

[21]  David C Samuels,et al.  What causes mitochondrial DNA deletions in human cells? , 2008, Nature Genetics.

[22]  K. Majamaa,et al.  Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene , 2003, Annals of neurology.

[23]  M. Zeviani,et al.  Mitochondrial disorders. , 2004, Brain : a journal of neurology.

[24]  C. Remacle,et al.  Impact of mutations affecting ND mitochondria-encoded subunits on the activity and assembly of complex I in Chlamydomonas. Implication for the structural organization of the enzyme. , 2002, Journal of molecular biology.

[25]  Mordechai Shohat,et al.  Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness , 1993, Nature Genetics.