MT-CO1 to POI
MT-CO1 mutations in POI patients
Primary ovarian insufficiency (POI) is a syndrome of amenorrhea, sex steroid deficiency and elevated gonadotropins in women younger than 40 years. This study found a high incidence of missense mutations in mitochondrial cytochrome c oxidase 1 (MT-CO1) gene in patients with POI using next-generation sequencing (NGS) and identified two novel missense mutations which were predicted to be damaging, indicated that MT-CO1 gene mutations may be an important causal event in the development of POI.
Primary ovarian insufficiency (POI) is a syndrome of amenorrhea, sex steroid deficiency and elevated gonadotropins in women younger than 40 years. This study found a high incidence of missense mutations in mitochondrial cytochrome c oxidase 1 (MT-CO1) gene in patients with POI using next-generation sequencing (NGS) and identified two novel missense mutations which were predicted to be damaging, indicated that MT-CO1 gene mutations may be an important causal event in the development of POI.