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Mitochondrial myopathy with a defect in mitochondrial-protein transport

MedGen UID:
381541
•Concept ID:
C1855034
•
Disease or Syndrome
Synonym: Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport
 
Monarch Initiative: MONDO:0009638
OMIM®: 251945

Authors:
Patrick F Chinnery   view full author information

Clinical features

From HPO
Exercise intolerance
MedGen UID:
603270
•Concept ID:
C0424551
•
Finding
A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender.
See: Feature record | Search on this feature
Muscle weakness
MedGen UID:
57735
•Concept ID:
C0151786
•
Finding
Reduced strength of muscles.
See: Feature record | Search on this feature
Inborn mitochondrial myopathy
MedGen UID:
56484
•Concept ID:
C0162670
•
Disease or Syndrome
A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Inhibition of mitochondrial complex IV leads to secondary loss complex II-III activity: implications for the pathogenesis and treatment of mitochondrial encephalomyopathies.
Hargreaves IP, Duncan AJ, Wu L, Agrawal A, Land JM, Heales SJ
Mitochondrion 2007 Jul;7(4):284-7. Epub 2007 Feb 12 doi: 10.1016/j.mito.2007.02.001. PMID: 17395552
Treatment of Kearns-Sayre syndrome with coenzyme Q10.
Ogasahara S, Nishikawa Y, Yorifuji S, Soga F, Nakamura Y, Takahashi M, Hashimoto S, Kono N, Tarui S
Neurology 1986 Jan;36(1):45-53. doi: 10.1212/wnl.36.1.45. PMID: 3941783

Recent clinical studies

Etiology

Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.
O'Connor K, Spendiff S, Lochmüller H, Horvath R
Int J Mol Sci 2023 May 9;24(10) doi: 10.3390/ijms24108505. PMID: 37239850Free 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
Statins, myalgia, and rhabdomyolysis.
Tournadre A
Joint Bone Spine 2020 Jan;87(1):37-42. Epub 2019 Feb 6 doi: 10.1016/j.jbspin.2019.01.018. PMID: 30735805
Disease-Associated Genetic Variation in Human Mitochondrial Protein Import.
Nicolas E, Tricarico R, Savage M, Golemis EA, Hall MJ
Am J Hum Genet 2019 May 2;104(5):784-801. doi: 10.1016/j.ajhg.2019.03.019. PMID: 31051112Free PMC Article
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

Diagnosis

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
Carnitine transport and fatty acid oxidation.
Longo N, Frigeni M, Pasquali M
Biochim Biophys Acta 2016 Oct;1863(10):2422-35. Epub 2016 Jan 29 doi: 10.1016/j.bbamcr.2016.01.023. PMID: 26828774Free PMC Article
Mitochondriopathies.
Finsterer J
Eur J Neurol 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. PMID: 15009163
Mitochondrial encephalomyopathies.
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

Therapy

Statins, myalgia, and rhabdomyolysis.
Tournadre A
Joint Bone Spine 2020 Jan;87(1):37-42. Epub 2019 Feb 6 doi: 10.1016/j.jbspin.2019.01.018. PMID: 30735805
Carnitine transport and fatty acid oxidation.
Longo N, Frigeni M, Pasquali M
Biochim Biophys Acta 2016 Oct;1863(10):2422-35. Epub 2016 Jan 29 doi: 10.1016/j.bbamcr.2016.01.023. PMID: 26828774Free PMC Article
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G, Zeviani M
Am J Hum Genet 2010 Apr 9;86(4):639-49. Epub 2010 Apr 1 doi: 10.1016/j.ajhg.2010.03.002. PMID: 20362274Free PMC Article
New indications and controversies in arginine therapy.
Coman D, Yaplito-Lee J, Boneh A
Clin Nutr 2008 Aug;27(4):489-96. Epub 2008 Jul 21 doi: 10.1016/j.clnu.2008.05.007. PMID: 18640748
Oxidants, antioxidants and alcohol: implications for skeletal and cardiac muscle.
Preedy VR, Patel VB, Reilly ME, Richardson PJ, Falkous G, Mantle D
Front Biosci 1999 Aug 1;4:e58-66. doi: 10.2741/A480. PMID: 10430553

Prognosis

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X
Genes Genomics 2022 Jun;44(6):691-698. Epub 2022 Apr 28 doi: 10.1007/s13258-022-01260-x. PMID: 35482246
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
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F, Lunetti P, Curcio R, Lasorsa FM, Capobianco L, Porcelli V, Dolce V, Fiermonte G, Scarcia P
Biomolecules 2021 Nov 4;11(11) doi: 10.3390/biom11111633. PMID: 34827632Free 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
Mitochondriopathies.
Finsterer J
Eur J Neurol 2004 Mar;11(3):163-86. doi: 10.1046/j.1351-5101.2003.00728.x. PMID: 15009163

Clinical prediction guides

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X
Genes Genomics 2022 Jun;44(6):691-698. Epub 2022 Apr 28 doi: 10.1007/s13258-022-01260-x. PMID: 35482246
Effect of rapamycin on mitochondria and lysosomes in fibroblasts from patients with mtDNA mutations.
Cheema NJ, Cameron JM, Hood DA
Am J Physiol Cell Physiol 2021 Jul 1;321(1):C176-C186. Epub 2021 Jun 9 doi: 10.1152/ajpcell.00471.2020. PMID: 34106788
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D
Hum Mutat 2014 Aug;35(8):983-9. Epub 2014 Jun 24 doi: 10.1002/humu.22590. PMID: 24827421Free PMC Article
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M
Am J Hum Genet 2013 Sep 5;93(3):482-95. Epub 2013 Aug 29 doi: 10.1016/j.ajhg.2013.07.016. PMID: 23993194Free PMC Article
Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit.
Gerbitz KD, Gempel K, Brdiczka D
Diabetes 1996 Feb;45(2):113-26. doi: 10.2337/diab.45.2.113. PMID: 8549853

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