KEGG   DISEASE: H00469Help
Entry
H00469                      Disease                                

Name
Mitochondrial DNA depletion syndrome (MDS)
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 hierarchy
Pathway
Pyrimidine metabolism
Purine metabolism
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]
(MTDPS12) SLC25A4 [HSA:291] [KO:K05863]
(MTDPS13) FBXL4 [HSA:26235] [KO:K10270]
Drug
Pyruvate [CPD:C00022]
Comment
MNGIE type: MTDPS1, MTDPS4B, MTDPS8B
Myopathic type: MTDPS2, MTDPS11
Hepatocerebral type: MTDPS3, MTDPS6, MTDPS7
Encephalomyopathic: MTDPS5, MTDPS8A, MTDPS9, MTDP12, MTDP13
Alpers type: MTDPS4A
Other DBs
Reference
  Authors
Suomalainen A, Isohanni P
  Title
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
  Journal
Neuromuscul Disord 20:429-37 (2010)
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 (2011)
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)
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)
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)
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)

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