KEGG   DISEASE: H00473Help
Entry
H00473                      Disease                                

Name
Mitochondrial respiratory chain deficiencies (MRCD), including:
Mitochondrial complex I deficiency (MT-C1D);
Complex II deficiency (MT-C2D);
Complex III deficiency (MT-C3D);
Leigh syndrome (LS) [DS:H01354];
Leber Hereditary Optic Neuropathy (LHON) [DS:H00068];
Leber Optic Atrophy and Dystonia (LDYT) [DS:H01365];
MELAS Syndrome [DS:H01347];
Kearns-Sayre Syndrome (KSS) [DS:H01355];
GRACILE Syndrome
Description
Mitochondrial respiratory chain deficiencies (MRCD) are a group of disorders of adults and children, with highly variable phenotypes that include macrocephaly with progressive leukodystrophy, encephalopathy (including MELAS), cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease and Alzheimer's disease.
Category
Inherited metabolic disease; Mitochondrial disease
BRITE hierarchy
Pathway
Oxidative phosphorylation
Gene
(MT-C1D) NDUFS1 [HSA:4719] [KO:K03934]
(MT-C1D) NDUFS2 [HSA:4720] [KO:K03935]
(MT-C1D/LS) NDUFS3 [HSA:4722] [KO:K03936]
(MT-C1D/LS) NDUFS4 [HSA:4724] [KO:K03937]
(MT-C1D) NDUFS6 [HSA:4726] [KO:K03939]
(MT-C1D/LS) NDUFS7 [HSA:374291] [KO:K03940]
(MT-C1D/LS) NDUFS8 [HSA:4728] [KO:K03941]
(MT-C1D) NDUFA1 [HSA:4694] [KO:K03945]
(MT-C1D) NDUFA11 [HSA:126328] [KO:K03956]
(MT-C1D/LS) NDUFAF2 [HSA:91942] [KO:K18160]
(MT-C1D) NDUFAF3 [HSA:25915] [KO:K09008]
(MT-C1D) NDUFAF4 [HSA:29078] [KO:K18161]
(MT-C1D/LS) NDUFV1 [HSA:4723] [KO:K03942]
(MT-C1D) NDUFV2 [HSA:4729] [KO:K03943]
(MT-C1D) NUBPL [HSA:80224] [KO:K03593]
(MT-C1D/LS) FOXRED1 [HSA:55572] [KO:K18166]
(MT-C1D) NDUFAF5 [HSA:79133] [KO:K18162]
(MT-C1D/LS) NDUFAF6 [HSA:137682] [KO:K18163]
(MT-C1D) ACAD9 [HSA:28976] [KO:K15980]
(MT-C1D/LHON/LDYT/MELAS) MT-ND1 [HSA:4535] [KO:K03878]
(MT-C1D/LHON) MT-ND2 [HSA:4536] [KO:K03879]
(MT-C1D/LS/LDYT/KSS) MT-ND3 [HSA:4537] [KO:K03880]
(MT-C1D/LHON/LDYT/KSS) MT-ND4 [HSA:4538] [KO:K03881]
(MT-C1D/LHON) MT-ND4L [HSA:4539] [KO:K03882]
(MT-C1D/LHON/LS/MELAS/KSS) MT-ND5 [HSA:4540] [KO:K03883]
(MT-C1D/LHON/LDYT/KSS) MT-ND6 [HSA:4541] [KO:K03884]
(MT-C2D) SDHAF1 [HSA:644096] [KO:K18167]
(MT-C2D/LS) SDHA [HSA:6389] [KO:K00234]
(MT-C3D/LS/GRACILE) BCS1L [HSA:617] [KO:K08900]
(MT-C3D) UQCRQ [HSA:27089] [KO:K00418]
(MT-C3D) UQCRB [HSA:7381] [KO:K00417]
(MT-C3D/LHON/KSS) MT-CYB [HSA:4519] [KO:K00412]
(MT-C3D) TTC19 [HSA:54902] [KO:K18169]
Drug
(MELAS) L-arginin [DR:D02982]
(MELAS) Coenzyme Q10 [DR:D01065]
Comment
KSS, LHON, MELAS, and MERRF can be caused by mutation in multiple genes encoded by the mitochondrial genome mtDNA.
Other DBs
Reference
  Authors
Distelmaier F, Koopman WJ, van den Heuvel LP, Rodenburg RJ, Mayatepek E, Willems PH, Smeitink JA
  Title
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
  Journal
Brain 132:833-42 (2009)
Reference
  Authors
Bayley JP, Devilee P, Taschner PE
  Title
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency.
  Journal
BMC Med Genet 6:39 (2005)
Reference
  Authors
Benit P, Lebon S, Rustin P
  Title
Respiratory-chain diseases related to complex III deficiency.
  Journal
Biochim Biophys Acta 1793:181-5 (2009)
Reference
  Authors
Saneto RP, Friedman SD, Shaw DW
  Title
Neuroimaging of mitochondrial disease.
  Journal
Mitochondrion 8:396-413 (2008)
Reference
  Authors
Alfadhel M, Lillquist YP, Waters PJ, Sinclair G, Struys E, McFadden D, Hendson G, Hyams L, Shoffner J, Vallance HD
  Title
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
  Journal
Am J Med Genet A 155A:840-4 (2011)
Reference
  Authors
Santa KM
  Title
Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
  Journal
Pharmacotherapy 30:1179-96 (2010)
Reference
  Authors
Koga Y, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T
  Title
MELAS and L-arginine therapy: pathophysiology of stroke-like episodes.
  Journal
Ann N Y Acad Sci 1201:104-10 (2010)
Reference
  Authors
Coskun P, Wyrembak J, Schriner S, Chen HW, Marciniack C, Laferla F, Wallace DC
  Title
A mitochondrial etiology of Alzheimer and Parkinson disease.
  Journal
Biochim Biophys Acta (2011)
Reference
  Authors
He M, Rutledge SL, Kelly DR, Palmer CA, Murdoch G, Majumder N, Nicholls RD, Pei Z, Watkins PA, Vockley J
  Title
A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency.
  Journal
Am J Hum Genet 81:87-103 (2007)
Reference
  Authors
Blazquez A, Gil-Borlado MC, Moran M, Verdu A, Cazorla-Calleja MR, Martin MA, Arenas J, Ugalde C
  Title
Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.
  Journal
Neuromuscul Disord 19:143-6 (2009)

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