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Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes

MedGen UID:
1843278
•Concept ID:
C5681078
•
Disease or Syndrome
Orphanet: ORPHA309136

Professional guidelines

PubMed

Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V
Orphanet J Rare Dis 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. PMID: 35854306Free PMC Article
Phenotype-Genotype Analysis Based on Molecular Classification in 135 Children With Mitochondrial Disease.
Wu T, He F, Xiao N, Han Y, Yang L, Peng J
Pediatr Neurol 2022 Jul;132:11-18. Epub 2022 Apr 30 doi: 10.1016/j.pediatrneurol.2022.04.013. PMID: 35598585
Advances in the treatment of mitochondrial epilepsies.
Rahman S
Epilepsy Behav 2019 Dec;101(Pt B):106546. Epub 2019 Oct 31 doi: 10.1016/j.yebeh.2019.106546. PMID: 31677997

Recent clinical studies

Etiology

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Long-Chain Polyunsaturated Fatty Acids (LCPUFAs) and the Developing Immune System: A Narrative Review.
Miles EA, Childs CE, Calder PC
Nutrients 2021 Jan 16;13(1) doi: 10.3390/nu13010247. PMID: 33467123Free PMC Article
Advances in the treatment of mitochondrial epilepsies.
Rahman S
Epilepsy Behav 2019 Dec;101(Pt B):106546. Epub 2019 Oct 31 doi: 10.1016/j.yebeh.2019.106546. PMID: 31677997
Control of mitochondrial biogenesis and function by the ubiquitin-proteasome system.
Bragoszewski P, Turek M, Chacinska A
Open Biol 2017 Apr;7(4) doi: 10.1098/rsob.170007. PMID: 28446709Free PMC Article
Mitochondrial disorders.
Schapira AH
Curr Opin Neurol 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004. PMID: 11073358

Diagnosis

Leigh syndrome.
Rahman S
Handb Clin Neurol 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. PMID: 36813320
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
Wang T, Liu H, Itoh K, Oh S, Zhao L, Murata D, Sesaki H, Hartung T, Na CH, Wang J
Cell Metab 2021 Mar 2;33(3):531-546.e9. Epub 2021 Feb 4 doi: 10.1016/j.cmet.2021.01.005. PMID: 33545050Free PMC Article
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063
Mitochondrial disorders.
Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864

Therapy

A Primer Genetic Toolkit for Exploring Mitochondrial Biology and Disease Using Zebrafish.
Sabharwal A, Campbell JM, Schwab TL, WareJoncas Z, Wishman MD, Ata H, Liu W, Ichino N, Hunter DE, Bergren JD, Urban MD, Urban RM, Holmberg SR, Kar B, Cook A, Ding Y, Xu X, Clark KJ, Ekker SC
Genes (Basel) 2022 Jul 23;13(8) doi: 10.3390/genes13081317. PMID: 35893052Free PMC Article
Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction.
Kaustio M, Nayebzadeh N, Hinttala R, Tapiainen T, Åström P, Mamia K, Pernaa N, Lehtonen J, Glumoff V, Rahikkala E, Honkila M, Olsén P, Hassinen A, Polso M, Al Sukaiti N, Al Shekaili J, Al Kindi M, Al Hashmi N, Almusa H, Bulanova D, Haapaniemi E, Chen P, Suo-Palosaari M, Vieira P, Tuominen H, Kokkonen H, Al Macki N, Al Habsi H, Löppönen T, Rantala H, Pietiäinen V, Zhang SY, Renko M, Hautala T, Al Farsi T, Uusimaa J, Saarela J
J Allergy Clin Immunol 2021 Aug;148(2):599-611. Epub 2021 Mar 1 doi: 10.1016/j.jaci.2020.12.656. PMID: 33662367
Advances in the treatment of mitochondrial epilepsies.
Rahman S
Epilepsy Behav 2019 Dec;101(Pt B):106546. Epub 2019 Oct 31 doi: 10.1016/j.yebeh.2019.106546. PMID: 31677997
Complex I disorders: causes, mechanisms, and development of treatment strategies at the cellular level.
Valsecchi F, Koopman WJ, Manjeri GR, Rodenburg RJ, Smeitink JA, Willems PH
Dev Disabil Res Rev 2010;16(2):175-82. doi: 10.1002/ddrr.107. PMID: 20818732
Mitochondrial disorders.
Schapira AH
Curr Opin Neurol 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004. PMID: 11073358

Prognosis

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
van der Ven AT, Cabrera-Orefice A, Wente I, Feichtinger RG, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr JA, Hempel M, Wittig I
Mol Genet Metab 2023 Nov;140(3):107675. Epub 2023 Aug 4 doi: 10.1016/j.ymgme.2023.107675. PMID: 37572574
A Primer Genetic Toolkit for Exploring Mitochondrial Biology and Disease Using Zebrafish.
Sabharwal A, Campbell JM, Schwab TL, WareJoncas Z, Wishman MD, Ata H, Liu W, Ichino N, Hunter DE, Bergren JD, Urban MD, Urban RM, Holmberg SR, Kar B, Cook A, Ding Y, Xu X, Clark KJ, Ekker SC
Genes (Basel) 2022 Jul 23;13(8) doi: 10.3390/genes13081317. PMID: 35893052Free PMC Article
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063
Spectrum of combined respiratory chain defects.
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W
J Inherit Metab Dis 2015 Jul;38(4):629-40. Epub 2015 Mar 17 doi: 10.1007/s10545-015-9831-y. PMID: 25778941Free PMC Article

Clinical prediction guides

COX17 acetylation via MOF-KANSL complex promotes mitochondrial integrity and function.
Guhathakurta S, Erdogdu NU, Hoffmann JJ, Grzadzielewska I, Schendzielorz A, Seyfferth J, Mårtensson CU, Corrado M, Karoutas A, Warscheid B, Pfanner N, Becker T, Akhtar A
Nat Metab 2023 Nov;5(11):1931-1952. Epub 2023 Oct 9 doi: 10.1038/s42255-023-00904-w. PMID: 37813994Free PMC Article
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.
van der Ven AT, Cabrera-Orefice A, Wente I, Feichtinger RG, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr JA, Hempel M, Wittig I
Mol Genet Metab 2023 Nov;140(3):107675. Epub 2023 Aug 4 doi: 10.1016/j.ymgme.2023.107675. PMID: 37572574
Visualization of translation and protein biogenesis at the ER membrane.
Gemmer M, Chaillet ML, van Loenhout J, Cuevas Arenas R, Vismpas D, Gröllers-Mulderij M, Koh FA, Albanese P, Scheltema RA, Howes SC, Kotecha A, Fedry J, Förster F
Nature 2023 Feb;614(7946):160-167. Epub 2023 Jan 25 doi: 10.1038/s41586-022-05638-5. PMID: 36697828Free PMC Article
Novel FSIP2 Variants Induce Super-Length Mitochondrial Sheath and Asthenoteratozoospermia in Humans.
Lv M, Tang D, Yu H, Geng H, Zhou Y, Shao Z, Li K, Gao Y, Guo S, Xu C, Tan Q, Liu C, Guo R, Wu H, Duan Z, Zhang J, Wang G, Hua R, Fu F, Wang K, Xu Y, Zhou P, Wei Z, Zhang F, Cao Y, He X
Int J Biol Sci 2023;19(2):393-411. Epub 2023 Jan 1 doi: 10.7150/ijbs.76051. PMID: 36632462Free PMC Article
Mitochondrial biogenesis as a therapeutic target for traumatic and neurodegenerative CNS diseases.
Simmons EC, Scholpa NE, Schnellmann RG
Exp Neurol 2020 Jul;329:113309. Epub 2020 Apr 11 doi: 10.1016/j.expneurol.2020.113309. PMID: 32289315Free PMC Article

Recent systematic reviews

Complex I deficiency: clinical features, biochemistry and molecular genetics.
Fassone E, Rahman S
J Med Genet 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. PMID: 22972949

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