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Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

MedGen UID:
1826011
•Concept ID:
C5679645
•
Disease or Syndrome
Synonyms: Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA; OXPHOS disease due to a point mutation of mitochondrial DNA; OXPHOS disease due to a point mutation of mtDNA
 
Orphanet: ORPHA254776

Professional guidelines

PubMed

Diagnosis and treatment of childhood mitochondrial diseases.
Gropman AL
Curr Neurol Neurosci Rep 2001 Mar;1(2):185-94. doi: 10.1007/s11910-001-0015-9. PMID: 11898515

Recent clinical studies

Etiology

Mitochondrial DNA: Unraveling the "other" genome.
Heuer B
J Am Assoc Nurse Pract 2021 Sep 1;33(9):673-675. doi: 10.1097/JXX.0000000000000646. PMID: 34491238
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders.
Mkaouar-Rebai E, Felhi R, Tabebi M, Alila-Fersi O, Chamkha I, Maalej M, Ammar M, Kammoun F, Keskes L, Hachicha M, Fakhfakh F
Biochem Biophys Res Commun 2016 Apr 29;473(2):578-85. Epub 2016 Mar 28 doi: 10.1016/j.bbrc.2016.03.126. PMID: 27033601
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Crit Rev Biochem Mol Biol 2012 Jan-Feb;47(1):64-74. doi: 10.3109/10409238.2011.632763. PMID: 22176657Free PMC Article
Human mitochondrial DNA diseases.
Pulkes T, Hanna MG
Adv Drug Deliv Rev 2001 Jul 2;49(1-2):27-43. doi: 10.1016/s0169-409x(01)00124-7. PMID: 11377801
Maternal inheritance and the evaluation of oxidative phosphorylation diseases.
Shoffner JM
Lancet 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6. PMID: 8909383

Diagnosis

Inherited mitochondrial optic neuropathies.
Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF
J Med Genet 2009 Mar;46(3):145-58. Epub 2008 Nov 10 doi: 10.1136/jmg.2007.054270. PMID: 19001017Free PMC Article
Diagnosis and treatment of childhood mitochondrial diseases.
Gropman AL
Curr Neurol Neurosci Rep 2001 Mar;1(2):185-94. doi: 10.1007/s11910-001-0015-9. PMID: 11898515
Disorders of the mitochondria.
Treem WR, Sokol RJ
Semin Liver Dis 1998;18(3):237-53. doi: 10.1055/s-2007-1007160. PMID: 9773424
Protean manifestations of mitochondrial diseases: a minireview.
Kerr DS
J Pediatr Hematol Oncol 1997 Jul-Aug;19(4):279-86. doi: 10.1097/00043426-199707000-00003. PMID: 9256824
Maternal inheritance and the evaluation of oxidative phosphorylation diseases.
Shoffner JM
Lancet 1996 Nov 9;348(9037):1283-8. doi: 10.1016/S0140-6736(96)09138-6. PMID: 8909383

Therapy

MitoTALEN reduces mutant mtDNA load and restores tRNA(Ala) levels in a mouse model of heteroplasmic mtDNA mutation.
Bacman SR, Kauppila JHK, Pereira CV, Nissanka N, Miranda M, Pinto M, Williams SL, Larsson NG, Stewart JB, Moraes CT
Nat Med 2018 Nov;24(11):1696-1700. Epub 2018 Sep 24 doi: 10.1038/s41591-018-0166-8. PMID: 30250143Free PMC Article
Mitochondrial dysfunction and pathology in bipolar disorder and schizophrenia.
Clay HB, Sillivan S, Konradi C
Int J Dev Neurosci 2011 May;29(3):311-24. Epub 2010 Sep 15 doi: 10.1016/j.ijdevneu.2010.08.007. PMID: 20833242Free PMC Article
The G11778A LHON mutation does not enhance ethambutol cytotoxicity in a cybrid model.
Pommer R, Schoeler S, Mawrin C, Szibor R, Kirches E
Clin Neuropathol 2008 Nov-Dec;27(6):414-23. doi: 10.5414/npp27414. PMID: 19130740
HIV and mitochondrial toxicity in children.
Foster C, Lyall H
J Antimicrob Chemother 2008 Jan;61(1):8-12. Epub 2007 Nov 13 doi: 10.1093/jac/dkm411. PMID: 17999978
Mitochondrial DNA in stroke and migraine with aura.
Ojaimi J, Katsabanis S, Bower S, Quigley A, Byrne E
Cerebrovasc Dis 1998 Mar-Apr;8(2):102-6. doi: 10.1159/000015826. PMID: 9548008

Prognosis

Mitochondrial DNA: Unraveling the "other" genome.
Heuer B
J Am Assoc Nurse Pract 2021 Sep 1;33(9):673-675. doi: 10.1097/JXX.0000000000000646. PMID: 34491238
Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).
Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N
Mol Genet Metab 2007 Jun;91(2):148-56. Epub 2007 Mar 19 doi: 10.1016/j.ymgme.2007.02.006. PMID: 17374500Free PMC Article
Primary and secondary defects of the mitochondrial respiratory chain.
Schapira AH
J Inherit Metab Dis 2002 May;25(3):207-14. doi: 10.1023/a:1015629912477. PMID: 12137229
Mitochondrial DNA disorders.
Naviaux RK
Eur J Pediatr 2000 Dec;159 Suppl 3:S219-26. doi: 10.1007/pl00014407. PMID: 11216904
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy.
Thyagarajan D, Bressman S, Bruno C, Przedborski S, Shanske S, Lynch T, Fahn S, DiMauro S
Ann Neurol 2000 Nov;48(5):730-6. PMID: 11079536

Clinical prediction guides

Mitochondria, OxPhos, and neurodegeneration: cells are not just running out of gas.
Area-Gomez E, Guardia-Laguarta C, Schon EA, Przedborski S
J Clin Invest 2019 Jan 2;129(1):34-45. doi: 10.1172/JCI120848. PMID: 30601141Free PMC Article
Mitochondrial dysfunction and pathology in bipolar disorder and schizophrenia.
Clay HB, Sillivan S, Konradi C
Int J Dev Neurosci 2011 May;29(3):311-24. Epub 2010 Sep 15 doi: 10.1016/j.ijdevneu.2010.08.007. PMID: 20833242Free PMC Article
Primary and secondary defects of the mitochondrial respiratory chain.
Schapira AH
J Inherit Metab Dis 2002 May;25(3):207-14. doi: 10.1023/a:1015629912477. PMID: 12137229
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
Diseases resulting from mitochondrial DNA point mutations.
Wallace DC, Lott MT, Shoffner JM, Brown MD
J Inherit Metab Dis 1992;15(4):472-9. doi: 10.1007/BF01799605. PMID: 1528007

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