Alpers syndrome [DS:H01389]
MNGIE syndrome [DS:H01390]
Sengers syndrome (MTDPS10)

Mitochondrial disease [DS:H01427]

Suomalainen A, Isohanni P

Mitochondrial DNA depletion syndromes--many genes, common mechanisms.

Neuromuscul Disord 20:429-37 (2010)
DOI:10.1016/j.nmd.2010.03.017

Saito K, Kimura N, Oda N, Shimomura H, Kumada T, Miyajima T, Murayama K, Tanaka M, Fujii T

Pyruvate therapy for mitochondrial DNA depletion syndrome.

Biochim Biophys Acta 1820:632-6 (2012)
DOI:10.1016/j.bbagen.2011.08.006

Nishino I, Spinazzola A, Hirano M

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

Science 283:689-92 (1999)
DOI:10.1126/science.283.5402.689

Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy.

Nat Genet 29:342-4 (2001)
DOI:10.1038/ng751

Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

Nat Genet 29:337-41 (2001)
DOI:10.1038/ng746

Naviaux RK, Nguyen KV

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.

Ann Neurol 55:706-12 (2004)
DOI:10.1002/ana.20079

Van Goethem G, Schwartz M, Lofgren A, Dermaut B, Van Broeckhoven C, Vissing J

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Eur J Hum Genet 11:547-9 (2003)
DOI:10.1038/sj.ejhg.5201002

Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, Pagnamenta A, Eshhar S, Saada A

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

Am J Hum Genet 76:1081-6 (2005)
DOI:10.1086/430843

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rotig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Nat Genet 38:570-5 (2006)
DOI:10.1038/ng1765

Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

Hum Mol Genet 14:2981-90 (2005)
DOI:10.1093/hmg/ddi328

Bourdon A, Minai L, Serre V, Jais JP, Sarzi E, Aubert S, Chretien D, de Lonlay P, Paquis-Flucklinger V, Arakawa H, Nakamura Y, Munnich A, Rotig A

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.

Nat Genet 39:776-80 (2007)
DOI:10.1038/ng2040

Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M

Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B.

Arch Neurol 66:1028-32 (2009)
DOI:10.1001/archneurol.2009.139

Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion.

Am J Hum Genet 81:383-7 (2007)
DOI:10.1086/519222

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

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.

Am J Hum Genet 90:314-20 (2012)
DOI:10.1016/j.ajhg.2011.12.005

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

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Nat Genet 45:214-9 (2013)
DOI:10.1038/ng.2501

Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Ounap K, Elpeleg O, Ferrero I, McFarland R, Kunji ER, Taylor RW

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Am J Hum Genet 99:860-876 (2016)
DOI:10.1016/j.ajhg.2016.08.014

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

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

Hum Mol Genet 14:3079-88 (2005)
DOI:10.1093/hmg/ddi341

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

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

Am J Hum Genet 93:471-81 (2013)
DOI:10.1016/j.ajhg.2013.07.017

Spiegel R, Saada A, Flannery PJ, Burte F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P

Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.

J Med Genet 53:127-31 (2016)
DOI:10.1136/jmedgenet-2015-103361

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

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

Mol Genet Metab 119:91-9 (2016)
DOI:10.1016/j.ymgme.2016.07.001

Hoff KE, DeBalsi KL, Sanchez-Quintero MJ, Longley MJ, Hirano M, Naini AB, Copeland WC

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.

PLoS One 13:e0203198 (2018)
DOI:10.1371/journal.pone.0203198

Dosekova P, Dubiel A, Karlowicz A, Zietkiewicz S, Rydzanicz M, Habalova V, Pienkowski VM, Skirkova M, Han V, Mosejova A, Gdovinova Z, Kaliszewska M, Tonska K, Szymanski MR, Skorvanek M, Ploski R

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian  failure and mitochondrial DNA depletion.

Eur J Med Genet 63:103821 (2020)
DOI:10.1016/j.ejmg.2019.103821

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

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Hum Mol Genet 26:4257-4266 (2017)
DOI:10.1093/hmg/ddx314

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

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.

Genet Med 20:1224-1235 (2018)
DOI:10.1038/gim.2017.251

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

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.

Hum Mol Genet 27:499-504 (2018)
DOI:10.1093/hmg/ddx419

Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Brain 144:1451-1466 (2021)
DOI:10.1093/brain/awab056

Hidalgo-Gutierrez A, Shintaku J, Ramon J, Barriocanal-Casado E, Pesini A, Saneto RP, Garrabou G, Milisenda JC, Matas-Garcia A, Gort L, Ugarteburu O, Gu Y, Koganti L, Wang T, Tadesse S, Meneri M, Sciacco M, Wang S, Tanji K, Horwitz MS, Dorschner MO, Mansukhani M, Comi GP, Ronchi D, Marti R, Ribes A, Tort F, Hirano M

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

Ann Neurol 96:1209-1224 (2024)
DOI:10.1002/ana.27071