Premature ovarian insufficiency may be associated with the mutations in mitochondrial tRNA genes
نویسندگان
چکیده
منابع مشابه
Mitochondrial tRNA mutations may be infrequent in hepatocellular carcinoma patients.
Mitochondrial DNA mutations have been shown to play important roles in the pathogenesis of hepatocellular carcinoma (HCC). In particular, genes encoding mitochondrial tRNA (mt-tRNA) are hotspots for pathogenic mutations associated with HCC. Recently, an increasing number of studies have reported the involvement of such mutations in this disease. As a result, several mt-tRNA mutations associated...
متن کاملMutations in NR5A1 associated with ovarian insufficiency.
BACKGROUND The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies ...
متن کاملVariants in mitochondrial tRNA gene may not be associated with thyroid carcinoma
Thyroid cancer is a very common form of endocrine system malignancy. To date, the molecular mechanism underlying thyroid cancer remains poorly understood. Studies of oncocytic tumors have led to a hypothesis which proposes that defects in oxidative phosphorylation (OX- PHOS) may result in a compensatory increase in mitochondrial replication and gene expression. As a result, mitochondrial DNA (m...
متن کاملO-43: Mutations in NR5A1 Associated withOvarian Insufficiency
Background: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies...
متن کاملPOLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women
Context Primary ovarian insufficiency (POI) results from a premature loss of oocytes, causing infertility and early menopause. The etiology of POI remains unknown in a majority of cases. Objective To identify candidate genes in families affected by POI. Design This was a family-based genetic study. Setting The study was performed at two academic institutions. Patients and Other Particip...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Endocrine Journal
سال: 2019
ISSN: 0918-8959,1348-4540
DOI: 10.1507/endocrj.ej18-0308