Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.
MT-ATP6 MT-ATP6
epilepsy
maternally inherited Leigh's syndrome (MILS)
neuropathy, ataxia, retinitis pigmentosa (NARP)
progressive myoclonic epilepsy (PME)
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
01
08
2020
revised:
02
11
2020
accepted:
10
11
2020
pubmed:
22
1
2021
medline:
3
11
2021
entrez:
21
1
2021
Statut:
ppublish
Résumé
The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (NARP) due to mutations in the mitochondrial ATP6 gene and to correlate electroclinical features with mutant heteroplasmy load (HL). We investigated 17 individuals with different phenotype, from asymptomatic carriers to MILS: 11 carried the m.8993T> G mutation, 5 the m.8993T> C and one the novel, de novo m.8858G> A mutation. Seizures occurred in 37.5% of patients, EEG abnormalities in 73%. We ranked clinical and EEG abnormalities severity and performed quantitative EEG to estimate Abnormality Ratio (AR) and Spectral Relative Power (SRP). Spearman's rho and Kruskal-Wallis test were used for correlation with heteroplasmy load (HL). HL correlated with disease severity (Rho = 0.63, P = 0.012) and was significantly higher in patients with seizures or EEG abnormalities (P = 0.014). HL correlated with EEG severity score only for the m.8993T> G (Rho = 0.73, P = 0.040), showing a trend toward a positive correlation with AR and delta SPR, irrespective of the mutation.
Identifiants
pubmed: 33476484
doi: 10.1002/acn3.51259
pmc: PMC7951109
doi:
Substances chimiques
MT-ATP6 protein, human
0
Mitochondrial Proton-Translocating ATPases
EC 3.6.3.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
704-710Informations de copyright
© 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
Références
Epilepsia. 2014 May;55(5):707-12
pubmed: 24605851
Am J Hum Genet. 1992 Apr;50(4):852-8
pubmed: 1550128
J Inherit Metab Dis. 1999 Dec;22(8):899-914
pubmed: 10604142
Arch Neurol. 2002 Feb;59(2):264-70
pubmed: 11843698
J Parkinsons Dis. 2015;5(1):117-24
pubmed: 25420672
Lancet Neurol. 2005 Apr;4(4):239-48
pubmed: 15778103
Epileptic Disord. 2006 Sep;8(3):200-3
pubmed: 16987741
Pediatr Res. 1995 May;37(5):634-9
pubmed: 7603783
Orphanet J Rare Dis. 2014 Apr 15;9:52
pubmed: 24731534
Neurology. 2007 Apr 24;68(17):1429-30
pubmed: 17452590
Am J Hum Genet. 1990 Mar;46(3):428-33
pubmed: 2137962
Neurol Genet. 2020 Jan 13;6(1):e393
pubmed: 32042921
J Neurol. 2003 Dec;250(12):1498-500
pubmed: 14673588
Ann Neurol. 1993 Dec;34(6):827-34
pubmed: 8250532
J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22
pubmed: 9221962