KEGG   DISEASE: Mitochondrial DNA depletion syndromeHelp
Entry
H00469                      Disease                                

Name
Mitochondrial DNA depletion syndrome
  Supergrp
Mitochondrial disease [DS:H01427]
Description
Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Some genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation.
Category
Inherited metabolic disease; Mitochondrial disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H00469  Mitochondrial DNA depletion syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C53  Inborn errors of energy metabolism
     H00469  Mitochondrial DNA depletion syndrome
BRITE hierarchy
Pathway
hsa00240  Pyrimidine metabolism
hsa00230  Purine metabolism
hsa00020  Citrate cycle (TCA cycle)
Gene
(MTDPS1) TYMP [HSA:1890] [KO:K00758]
(MTDPS2) TK2 [HSA:7084] [KO:K00857]
(MTDPS3) DGUOK [HSA:1716] [KO:K00904]
(MTDPS4A/4B) POLG [HSA:5428] [KO:K02332]
(MTDPS5) SUCLA2 [HSA:8803] [KO:K01900]
(MTDPS6) MPV17 [HSA:4358] [KO:K13348]
(MTDPS7) PEO1 [HSA:56652] [KO:K17680]
(MTDPS8A/8B) RRM2B [HSA:50484] [KO:K10808]
(MTDPS9) SUCLG1 [HSA:8802] [KO:K01899]
(MTDPS10) AGK [HSA:55750] [KO:K09881]
(MTDPS11) MGME1 [HSA:92667] [KO:K19465]
(MTDPS12) SLC25A4 [HSA:291] [KO:K05863]
(MTDPS13) FBXL4 [HSA:26235] [KO:K10270]
(MTDPS15) TFAM [HSA:7019] [KO:K11830]
Comment
MNGIE type: MTDPS1, MTDPS4B, MTDPS8B
Myopathic type: MTDPS2, MTDPS11
Hepatocerebral type: MTDPS3, MTDPS6, MTDPS7, MTDPS15
Encephalomyopathic: MTDPS5, MTDPS8A, MTDPS9, MTDP12, MTDP13
Alpers type: MTDPS4A
Other DBs
ICD-11: 5C53.20
ICD-10: E88.8
MeSH: D017237
OMIM: 603041 609560 251880 203700 613662 612073 256810 271245 612075 245400 221350 615084 615418 615471 617156
Reference
  Authors
Suomalainen A, Isohanni P
  Title
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
  Journal
Neuromuscul Disord 20:429-37 (2010)
DOI:10.1016/j.nmd.2010.03.017
Reference
  Authors
Saito K, Kimura N, Oda N, Shimomura H, Kumada T, Miyajima T, Murayama K, Tanaka M, Fujii T
  Title
Pyruvate therapy for mitochondrial DNA depletion syndrome.
  Journal
Biochim Biophys Acta 1820:632-6 (2012)
DOI:10.1016/j.bbagen.2011.08.006
Reference
  Authors
Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H
  Title
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
  Journal
Am J Hum Genet 90:314-20 (2012)
DOI:10.1016/j.ajhg.2011.12.005
Reference
  Authors
Kornblum C, Nicholls TJ, Haack TB, Scholer S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H
  Title
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
  Journal
Nat Genet 45:214-9 (2013)
DOI:10.1038/ng.2501
Reference
  Authors
Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M
  Title
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
  Journal
Hum Mol Genet 14:3079-88 (2005)
DOI:10.1093/hmg/ddi341
Reference
  Authors
Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW
  Title
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
  Journal
Am J Hum Genet 93:471-81 (2013)
DOI:10.1016/j.ajhg.2013.07.017
Reference
  Authors
Stiles AR, Simon MT, Stover A, Eftekharian S, Khanlou N, Wang HL, Magaki S, Lee H, Partynski K, Dorrani N, Chang R, Martinez-Agosto JA, Abdenur JE
  Title
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.
  Journal
Mol Genet Metab 119:91-9 (2016)
DOI:10.1016/j.ymgme.2016.07.001

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