Ontology highlight
ABSTRACT:
SUBMITTER: Piotrowska-Nowak A
PROVIDER: S-EPMC7584531 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
Piotrowska-Nowak Agnieszka A Krawczyński Maciej R MR Kosior-Jarecka Ewa E Ambroziak Anna M AM Korwin Magdalena M Ołdak Monika M Tońska Katarzyna K Bartnik Ewa E
Metabolic brain disease 20200801 8
Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with symptoms limited to a single tissue, optic nerve, resulting in vision loss. In the majority of cases it is caused by one of three point mutations in mitochondrial DNA (mtDNA) but their presence is not sufficient for disease development, since ~50% of men and ~10% women who carry them are affected. Thus additional modifying factors must exist. In this study, we use next generation sequencing to investigate the role of whole ...[more]