This article is about a group of autosomal recessive disorders. For a similarly abbreviated (MdDS) rare neurological condition, see Mal de debarquement. For a type of blood cancer (MDS), see Myelodysplastic syndrome.
Medical condition
Mitochondrial DNA depletion syndrome
Other names
mtDNA depletion syndrome
Mitochondrial DNA depletion syndrome is inherited in an autosomal recessive manner
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic.[1] These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived into adulthood with the SUCLA2 encephalomyopathic variant.[2][3] There is currently no curative treatment for any form of MDDS, though some preliminary treatments have shown a reduction in symptoms.[4]
^Elpeleg O (2003). "Inherited mitochondrial DNA depletion". Pediatr Res. 54 (2): 153–9. doi:10.1203/01.PDR.0000072796.25097.A5. PMID 12736387.
^Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, et al. (March 2016). "Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients". Journal of Inherited Metabolic Disease. 39 (2): 243–52. doi:10.1007/s10545-015-9894-9. PMID 26475597. S2CID 7881205.
^Finsterer, J; Ahting, U (September 2013). "Mitochondrial depletion syndromes in children and adults". The Canadian Journal of Neurological Sciences. 40 (5): 635–44. doi:10.1017/S0317167100014852. PMID 23968935.
^Saito K, Kimura N, Oda N, Shimomura H, Kumada T, Miyajima T, Murayama K, Tanaka M, Fujii T (May 2012). "Pyruvate therapy for mitochondrial DNA depletion syndrome". Biochimica et Biophysica Acta (BBA) - General Subjects. 1820 (5): 632–6. doi:10.1016/j.bbagen.2011.08.006. PMID 21855607.
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succinate. Defects in this gene are a cause of myopathic mitochondrialDNAdepletionsyndrome. A pseudogene of this gene has been found on chromosome 6...
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in the thymidine kinase gene may have a certain type of mitochondrialDNAdepletionsyndrome, a disease that leads to death in early childhood. Wikimedia...
mutated. Abnormalities in this gene are one of the causes of mitochondrialDNAdepletionsyndrome (MDDS). Neonatal hypotonia, developmental delay, encephalopathy...
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decrease in mitochondrial respiration and an increase in mitochondrial mass in fat cells. Stavudine also causes severe mitochondrialDNAdepletion. Combining...
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gene. Mutations in this gene have been linked to inherited mitochondrialDNAdepletionsyndromes, neonatal liver failure, nystagmus and hypotonia. GRCh38:...
hepatocerebral form of mitochondrialDNAdepletionsyndrome (MDS), a mutation in this protein leads to an mtDNA (mitochondrialDNA) copy number decrease...
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