No evidence for association of SCO2 heterozygosity with high-grade myopia or other diseases with possible mitochondrial dysfunction.
PBN-AR
Instytucja
Instytut "Pomnik - Centrum Zdrowia Dziecka"
Książka
Tytuł książki
Journal of inherited metabolic disorders reports.Case and research reports.
Data publikacji
2016
ISBN
9783662504086
Wydawca
Springer
Publikacja
Główny język publikacji
en
Tytuł rozdziału
No evidence for association of SCO2 heterozygosity with high-grade myopia or other diseases with possible mitochondrial dysfunction.
Rok publikacji
2016
Strony (od-do)
63-68
Numer rozdziału
9
Link do pełnego tekstu
Identyfikator DOI
Liczba arkuszy
0,5
Hasło encyklopedyczne
Słowa kluczowe
en
E140K carrier
myopia
SCO2 gene variant
SMA negative
Streszczenia
Język
en
Treść
SCO2 mutations cause recessively inherited cytochrome c oxidase deficiency. Recently Tran-Viet et al. proposed that heterozygosity for pathogenic SCO2 variants, including the common E140K variant, causes high-grade myopia. To investigate the association of SCO2 mutations with myopia, ophthalmic examinations were performed on 35 E140K carriers, one homozygous infant, and on a mouse model of Sco2 deficiency. Additionally, a screen for other putative effects of SCO2 heterozygosity was carried out by comparing the prevalence of the common E140K variant in a population of patients with undiagnosed diseases compatible with SCO2-related pathogenesis to that in a general population sample. High-grade myopia was not identified in any of the studied individuals. Of the carriers, 17 were emmetropic, and 18 possessed refractive errors. Additionally, no significant axial elongation indicative of high-grade myopia was found in mice carrying E129K (corresponding to E140K in humans) knock-in mutations. The prevalence of E140K carriers in the symptomatic cohort was evaluated as 1:103 (CI: 0.44-2.09) and did not differ significantly from the population prevalence (1:147, CI: 0.45-1.04).Our study demonstrates that heterozygosity for pathogenic SCO2 variants is not associated with high-grade myopia in either human patients or in mice.
Cechy publikacji
discipline:Medycyna
discipline:Medicine
Chapter in a book
Rozdział w książce
Inne
System-identifier
PBN-R:790868
CrossrefMetadata from Crossref logo
Cytowania
Liczba prac cytujących tę pracę
Brak danych
Referencje
Liczba prac cytowanych przez tę pracę
Brak danych