Mitochondrial DNA depletion syndrome

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search

Mitochondrial DNA depletion syndrome (MDS or MDDS) 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 cure for any form of MDDS, though some preliminary treatments have shown a reduction in symptoms.[4]

References[change | change source]

  1. Elpeleg O (2003). "Inherited mitochondrial DNA depletion.". Pediatr Res 54 (2): 153-9. doi:10.1203/01.PDR.0000072796.25097.A5. PMID 12736387. 
  2. Carrozzo R, Verrigni D, Rasmussen M, de Coo R, Amartino H, Bianchi M, Buhas D, Mesli S, Naess K, Born AP, Woldseth B, Prontera P, Batbayli M, Ravn K, Joensen F, Cordelli DM, Santorelli FM, Tulinius M, Darin N, Duno M, Jouvencel P, Burlina A, Stangoni G, Bertini E, Redonnet-Vernhet I, Wibrand F, Dionisi-Vici C, Uusimaa J, Vieira P, Osorio AN, McFarland R, Taylor RW, Holme E, Ostergaard E (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. 
  3. 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. 
  4. 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 1820 (5): 632–6. doi:10.1016/j.bbagen.2011.08.006. PMID 21855607.