Entry
Name
Mitochondrial DNA depletion syndrome
Subgroup
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
Congenital disorder of metabolism; 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
Related pathway
Gene
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
Reference
Authors
Suomalainen A, Isohanni P
Title
Mitochondrial DNA depletion syndromes--many genes, common mechanisms.
Journal
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
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
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
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
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
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
Reference
Authors
Hoff KE, DeBalsi KL, Sanchez-Quintero MJ, Longley MJ, Hirano M, Naini AB, Copeland WC
Title
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
Journal
Reference
Authors
Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M
Title
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Journal
Reference
Authors
Boczonadi V, King MS, Smith AC, Olahova M, Bansagi B, Roos A, Eyassu F, Borchers C, Ramesh V, Lochmuller H, Polvikoski T, Whittaker RG, Pyle A, Griffin H, Taylor RW, Chinnery PF, Robinson AJ, Kunji ERS, Horvath R
Title
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
Journal
Reference
Authors
Punzi G, Porcelli V, Ruggiu M, Hossain MF, Menga A, Scarcia P, Castegna A, Gorgoglione R, Pierri CL, Laera L, Lasorsa FM, Paradies E, Pisano I, Marobbio CMT, Lamantea E, Ghezzi D, Tiranti V, Giannattasio S, Donati MA, Guerrini R, Palmieri L, Palmieri F, De Grassi A
Title
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
Journal
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