KEGG DISEASE: MELAS syndrome

KEGG

DISEASE: MELAS syndrome

Entry

H01347                      Disease

Name

MELAS syndrome;
Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, Stroke-like episodes

Supergrp

Mitochondrial disease [DS:H01427]

Description

MELAS syndrome (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited multisystem mitochondrial disorder. This disease is associated with mutations in mitochondrial DNA and a biochemical deficiency of respiratory chain complex I. About 80% of MELAS patients have an A3243G mutation in the MTTL1 gene. Other mutations in MTTL1, other mitochondrial tRNA genes, and the mitochondrial MTND subunit genes of complex I have also been reported to cause MELAS.

Category

Inherited metabolic disorder, Mitochondrial disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C73  Mitochondrial myopathies
     H01347  MELAS syndrome

Pathway

Aminoacyl-tRNA biosynthesis

Oxidative phosphorylation

Gene

(MTTL1) TRNL1 [HSA:4567] [KO:K14228]
(MTTQ) TRNQ [HSA:4572] [KO:K14223]
(MTTH) TRNH [HSA:4564] [KO:K14226]
(MTTK) TRNK [HSA:4566] [KO:K14229]
(MTTC) TRNC [HSA:4511] [KO:K14222]
(MTTS1) TRNS1 [HSA:4574] [KO:K14233]
(MTTS2) TRNS2 [HSA:4575] [KO:K14233]
(MTTF) TRNF [HSA:4558] [KO:K14231]
(MTTV) TRNV [HSA:4577] [KO:K14237]
(MTTW) TRNW [HSA:4578] [KO:K14235]
(MTND1) ND1 [HSA:4535] [KO:K03878]
(MTND5) ND5 [HSA:4540] [KO:K03883]
(MTND6) ND6 [HSA:4541] [KO:K03884]
(MTCYB) CYTB [HSA:4519] [KO:K00412]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

El-Hattab AW, Adesina AM, Jones J, Scaglia F

Title

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

Journal

Mol Genet Metab 116:4-12 (2015)
DOI:10.1016/j.ymgme.2015.06.004

Reference

Authors

Hanna MG, Nelson IP, Morgan-Hughes JA, Wood NW

Title

MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Journal

J Neurol Neurosurg Psychiatry 65:512-7 (1998)
DOI:10.1136/jnnp.65.4.512

Reference

Authors

Koga Y, Povalko N, Nishioka J, Katayama K, Yatsuga S, Matsuishi T

Title

Molecular pathology of MELAS and L-arginine effects.

Journal

Biochim Biophys Acta 1820:608-14 (2012)
DOI:10.1016/j.bbagen.2011.09.005

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)
DOI:10.1111/j.1749-6632.2010.05624.x

Reference

PMID:21540128 (MTTV)

Authors

Glatz C, D'Aco K, Smith S, Sondheimer N

Title

Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.

Journal

Mitochondrion 11:615-9 (2011)
DOI:10.1016/j.mito.2011.04.003

Reference

PMID:26297375 (MTTW)

Authors

Hatakeyama H, Katayama A, Komaki H, Nishino I, Goto Y

Title

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).

Journal

Acta Neuropathol Commun 3:52 (2015)
DOI:10.1186/s40478-015-0227-x

Reference

PMID:15466014 (MTND1)

Authors

Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW

Title

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

Journal

J Med Genet 41:784-9 (2004)
DOI:10.1136/jmg.2004.020537

Reference

PMID:9894888 (MTCYB)

Authors

De Coo IF, Renier WO, Ruitenbeek W, Ter Laak HJ, Bakker M, Schagger H, Van Oost BA, Smeets HJ

Title

A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.

Journal

Ann Neurol 45:130-3 (1999)
DOI:10.1002/1531-8249(199901)45:1<130::aid-art21>3.3.co;2-q

LinkDB

» Japanese version

DBGET integrated database retrieval system