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Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

MedGen UID:
1842312
•Concept ID:
C5679573
•
Disease or Syndrome
Synonyms: Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies; OXPHOS disease due to nDNA anomalies; OXPHOS disease due to nuclear DNA anomalies
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Orphanet: ORPHA2443

Definition

A group of clinically heterogeneous diseases, commonly defined by lack of cellular energy due to defects of oxidative phosphorylation (OXPHOS), resulting from pathogenic mutations in the nuclear DNA. Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies includes diseases classified according to defects in: genes encoding structural components of OXPHOS complexes (such as Leigh syndrome, coenzyme Q10 deficiency); genes encoding assembly factors of OXPHOS complexes (such as GRACILE syndrome); genes altering the stability of mitochondrial DNA (such as autosomal dominant progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome); mitochondrial protein synthesis. [from ORDO]

Professional guidelines

PubMed

Preimplantation genetic testing as a preventive strategy for the transmission of mitochondrial DNA disorders.
Lan X, Ao WL, Li J
Syst Biol Reprod Med 2024 Dec;70(1):38-51. Epub 2024 Feb 7 doi: 10.1080/19396368.2024.2306389. PMID: 38323618

Recent clinical studies

Etiology

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR
Med 2021 Jan 15;2(1):49-73. Epub 2020 Jul 9 doi: 10.1016/j.medj.2020.06.004. PMID: 33575671Free PMC Article
Neuroimaging of Mitochondrial Cytopathies.
Alves CAPF, Gonçalves FG, Grieb D, Lucato LT, Goldstein AC, Zuccoli G
Top Magn Reson Imaging 2018 Aug;27(4):219-240. doi: 10.1097/RMR.0000000000000173. PMID: 30086109
Myoclonus epilepsy in mitochondrial disorders.
Lamperti C, Zeviani M
Epileptic Disord 2016 Sep 1;18(S2):94-102. doi: 10.1684/epd.2016.0846. PMID: 27618766
Mitochondrial myopathies and encephalomyopathies.
Schapira AH, Cock HR
Eur J Clin Invest 1999 Oct;29(10):886-98. doi: 10.1046/j.1365-2362.1999.00540.x. PMID: 10583431
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

Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR
Med 2021 Jan 15;2(1):49-73. Epub 2020 Jul 9 doi: 10.1016/j.medj.2020.06.004. PMID: 33575671Free PMC Article
Neuroimaging of Mitochondrial Cytopathies.
Alves CAPF, Gonçalves FG, Grieb D, Lucato LT, Goldstein AC, Zuccoli G
Top Magn Reson Imaging 2018 Aug;27(4):219-240. doi: 10.1097/RMR.0000000000000173. PMID: 30086109
Mitochondrial DNA transcription and translation: clinical syndromes.
Boczonadi V, Ricci G, Horvath R
Essays Biochem 2018 Jul 20;62(3):321-340. doi: 10.1042/EBC20170103. PMID: 29980628Free PMC Article
Perspectives of drug-based neuroprotection targeting mitochondria.
Procaccio V, Bris C, Chao de la Barca JM, Oca F, Chevrollier A, Amati-Bonneau P, Bonneau D, Reynier P
Rev Neurol (Paris) 2014 May;170(5):390-400. Epub 2014 May 1 doi: 10.1016/j.neurol.2014.03.005. PMID: 24792485
Disorders of the mitochondria.
Treem WR, Sokol RJ
Semin Liver Dis 1998;18(3):237-53. doi: 10.1055/s-2007-1007160. PMID: 9773424

Therapy

Perspectives of drug-based neuroprotection targeting mitochondria.
Procaccio V, Bris C, Chao de la Barca JM, Oca F, Chevrollier A, Amati-Bonneau P, Bonneau D, Reynier P
Rev Neurol (Paris) 2014 May;170(5):390-400. Epub 2014 May 1 doi: 10.1016/j.neurol.2014.03.005. PMID: 24792485
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

Prognosis

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
Chatzovoulou K, Mayeur A, Cagnard N, Zarhrate M, Bole C, Nitschke P, Jabot-Hanin F, Rötig A, Monnot S, Munnich A, Frydman N, Steffann J
Hum Reprod 2023 May 2;38(5):992-1002. doi: 10.1093/humrep/dead052. PMID: 36952633
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
van den Bosch BJ, Gerards M, Sluiter W, Stegmann AP, Jongen EL, Hellebrekers DM, Oegema R, Lambrichs EH, Prokisch H, Danhauser K, Schoonderwoerd K, de Coo IF, Smeets HJ
J Med Genet 2012 Jan;49(1):10-5. Epub 2011 Nov 23 doi: 10.1136/jmedgenet-2011-100466. PMID: 22114105
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, Miller C, Haas D, Hantschmann R, Rodenburg RJ, Smeitink JA, van den Heuvel LP
Eur J Hum Genet 2011 Apr;19(4):394-9. Epub 2010 Dec 29 doi: 10.1038/ejhg.2010.214. PMID: 21189481Free PMC Article
Abnormal expression of the genes involved in cytokine networks and mitochondrial function in systemic juvenile idiopathic arthritis identified by DNA microarray analysis.
Ishikawa S, Mima T, Aoki C, Yoshio-Hoshino N, Adachi Y, Imagawa T, Mori M, Tomiita M, Iwata N, Murata T, Miyoshi M, Takei S, Aihara Y, Yokota S, Matsubara K, Nishimoto N
Ann Rheum Dis 2009 Feb;68(2):264-72. Epub 2008 Apr 3 doi: 10.1136/ard.2007.079533. PMID: 18388159
Kearns-sayre syndrome: oncocytic transformation of choroid plexus epithelium.
Tanji K, Schon EA, DiMauro S, Bonilla E
J Neurol Sci 2000 Sep 1;178(1):29-36. doi: 10.1016/s0022-510x(00)00354-3. PMID: 11018246

Clinical prediction guides

Mitochondrial dysfunction: a neglected component of skin diseases.
Feichtinger RG, Sperl W, Bauer JW, Kofler B
Exp Dermatol 2014 Sep;23(9):607-14. doi: 10.1111/exd.12484. PMID: 24980550
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
Mitochondrial disorders.
Zeviani M, Spinazzola A
Curr Neurol Neurosci Rep 2003 Sep;3(5):423-32. doi: 10.1007/s11910-003-0026-9. PMID: 12914686
Mitochondrial disorders.
Zeviani M, Klopstock T
Curr Opin Neurol 2001 Oct;14(5):553-60. doi: 10.1097/00019052-200110000-00002. PMID: 11562565
The role of mitochondria in the pathogenesis of neurodegenerative diseases.
Manfredi G, Beal MF
Brain Pathol 2000 Jul;10(3):462-72. doi: 10.1111/j.1750-3639.2000.tb00278.x. PMID: 10885665Free PMC Article

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