Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA.
Leigh syndrome
hearing loss
mitochondrial DNA
pathologic mutation
penetrance
ribosomal RNA
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
27 08 2020
27 08 2020
Historique:
received:
09
07
2020
revised:
28
07
2020
accepted:
24
08
2020
entrez:
2
9
2020
pubmed:
2
9
2020
medline:
1
4
2021
Statut:
epublish
Résumé
Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients' tissues and cybrid cell lines were performed. mitochondrial DNA (mtDNA) m.1555A>G/ The m.1555A>G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.
Sections du résumé
BACKGROUND
Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes.
METHODS
Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients' tissues and cybrid cell lines were performed.
RESULTS
mitochondrial DNA (mtDNA) m.1555A>G/
CONCLUSION
The m.1555A>G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.
Identifiants
pubmed: 32867169
pii: genes11091007
doi: 10.3390/genes11091007
pmc: PMC7565518
pii:
doi:
Substances chimiques
RNA, Mitochondrial
0
RNA, Ribosomal
0
RNA, ribosomal, 12S
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
Cell Mol Life Sci. 2019 Feb;76(4):627-635
pubmed: 30341460
Hum Mol Genet. 2014 Dec 1;23(23):6191-200
pubmed: 24986921
J Clin Neurosci. 2007 Jun;14(6):603-7
pubmed: 16935512
Hum Mutat. 2008 Aug;29(8):E112-22
pubmed: 18484665
Hum Mutat. 2009 Feb;30(2):E386-94
pubmed: 18853457
Am J Hum Genet. 1999 Jan;64(1):295-300
pubmed: 9915970
Muscle Nerve. 2002 Feb;25(2):185-8
pubmed: 11870684
Mitochondrion. 2009 Jul;9(4):242-6
pubmed: 19272467
Neuroreport. 1996 Nov 4;7(15-17):2435-8
pubmed: 8981398
Biochem Biophys Res Commun. 2017 Feb 26;484(1):71-78
pubmed: 28104394
Eur Arch Otorhinolaryngol. 2012 Aug;269(8):2003-8
pubmed: 22692694
Front Neurosci. 2018 Feb 09;12:61
pubmed: 29479304
Teratology. 2000 Mar;61(3):165-71
pubmed: 10661905
Am J Hum Genet. 2011 Apr 8;88(4):433-9
pubmed: 21457906
Biochem Biophys Res Commun. 2013 Feb 22;431(4):670-4
pubmed: 23357420
Neuromuscul Disord. 2002 Jun;12(5):506-12
pubmed: 12031626
Am J Hum Genet. 2004 Jan;74(1):139-52
pubmed: 14681830
Biochim Biophys Acta. 2009 May;1787(5):476-83
pubmed: 18840399
J Med Genet. 2009 Jan;46(1):64-7
pubmed: 19124644
Hum Mol Genet. 2010 Sep 1;19(17):3343-53
pubmed: 20566709
Mol Genet Metab. 2009 Apr;96(4):189-95
pubmed: 19185523
J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):257-65
pubmed: 23772060
Front Genet. 2015 Jan 14;5:469
pubmed: 25642242
BMC Bioinformatics. 2017 Mar 7;18(1):158
pubmed: 28270093
Clin Chim Acta. 1994 Jul;228(1):35-51
pubmed: 7955428
J Pediatr. 2014 Feb;164(2):413-5
pubmed: 24252789
Electrophoresis. 2007 Nov;28(21):3811-20
pubmed: 17960833
Nat Genet. 1993 Jul;4(3):289-94
pubmed: 7689389
Ann Neurol. 2016 Feb;79(2):190-203
pubmed: 26506407
Curr Pharm Des. 2001 Jun;7(9):859-80
pubmed: 11375782
J Biol Chem. 2018 Mar 2;293(9):3321-3334
pubmed: 29348176
Eur J Hum Genet. 2012 Jun;20(6):607-12
pubmed: 22317974