Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic
COQ8A deletion
CoQ10
ataxia
encephalomyopathy
mitochondrial disease
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jul 2020
Jul 2020
Historique:
received:
24
12
2019
revised:
25
01
2020
accepted:
11
02
2020
entrez:
21
7
2020
pubmed:
21
7
2020
medline:
21
7
2020
Statut:
epublish
Résumé
Coenzyme Q10 (CoQ10) deficiency is a clinically and genetically heterogeneous subtype of mitochondrial disease. We report two girls with ataxia and mitochondrial respiratory chain deficiency who were shown to have primary CoQ10 deficiency. Muscle histochemistry displayed signs of mitochondrial dysfunction-ragged red fibers, mitochondrial paracrystalline inclusions, and lipid deposits while biochemical analyses revealed complex II+III respiratory chain deficiencies. MRI brain demonstrated cerebral and cerebellar atrophy. Targeted molecular analysis identified a homozygous c.1015G>A, p.(Ala339Thr)
Identifiants
pubmed: 32685350
doi: 10.1002/jmd2.12107
pii: JMD212107
pmc: PMC7358671
doi:
Types de publication
Journal Article
Langues
eng
Pagination
45-53Informations de copyright
© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose. All authors have read and approved the submitted manuscript.
Références
J Clin Invest. 2013 Dec;123(12):5179-89
pubmed: 24270420
J Med Genet. 2015 Nov;52(11):779-83
pubmed: 26084283
J Clin Invest. 2007 Mar;117(3):765-72
pubmed: 17332895
Methods Cell Biol. 2007;80:93-119
pubmed: 17445690
Am J Hum Genet. 2006 Dec;79(6):1125-9
pubmed: 17186472
Proc Natl Acad Sci U S A. 1990 Nov;87(22):8931-4
pubmed: 2247468
Int J Biochem Cell Biol. 2014 Apr;49:105-11
pubmed: 24495877
Mol Cell. 2016 Aug 18;63(4):608-620
pubmed: 27499294
Trends Biochem Sci. 2017 Oct;42(10):824-843
pubmed: 28927698
J Med Genet. 2012 Mar;49(3):187-91
pubmed: 22368301
Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92
pubmed: 24174537
Nucleic Acids Res. 2014 Jan;42(Database issue):D980-5
pubmed: 24234437
J Neuropathol Exp Neurol. 2015 Jul;74(7):688-703
pubmed: 26083569
Am J Hum Genet. 2009 May;84(5):558-66
pubmed: 19375058
J Inherit Metab Dis. 2015 Jan;38(1):145-56
pubmed: 25091424
Am J Hum Genet. 2006 Feb;78(2):345-9
pubmed: 16400613
J Med Genet. 2016 Sep;53(9):634-41
pubmed: 27091925
J Am Soc Nephrol. 2007 Oct;18(10):2773-80
pubmed: 17855635
J Inherit Metab Dis. 2020 Mar;43(2):297-308
pubmed: 31339582
Biochim Biophys Acta. 2016 Aug;1857(8):1073-1078
pubmed: 26970214
Clin Chim Acta. 2015 Oct 23;450:356-61
pubmed: 26386164
J Clin Invest. 2011 May;121(5):2013-24
pubmed: 21540551
Dev Disabil Res Rev. 2010;16(2):183-8
pubmed: 20818733
Clin Chem. 2005 Dec;51(12):2380-2
pubmed: 16306103
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Ann Neurol. 2014 Oct;76(4):473-83
pubmed: 25131622
Neuromuscul Disord. 2010 Jan;20(1):44-8
pubmed: 19945282
Am J Hum Genet. 2008 Mar;82(3):661-72
pubmed: 18319074
Ann Clin Biochem. 2003 May;40(Pt 3):207-18
pubmed: 12803831