Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P10721 (c-kit)
 6,575 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Premature ovarian failure is defined as hypoestrogenism with elevated gonadotropins, occurring before the age of 40. The prevalence of this syndrome is 3% of the women population. In most cases its etiology remains unknown. In theory, ovarian failure may occur by the following mechanisms: the pool of primordial follicule is too low; the atresia ou apoptosis is increased in the ovarian follicle; the follicle maturation is interrupted. In the past few years, several genes have been implicated in the pathogenesis of human or murine premature ovarian failure. Those genes can be classified according to the potential mechanisms previously described. Atm and c-kit gene code for proteins involved in maintaining the pool of primordial follicles. Genes located on the X chromosome, genes involved in blepharophimosis, in galactosemia code for proteins involved in follicular atresia. The gonadotropins, their receptors, GDF9 and connexin 37 are involved in follicle maturation. A better understanding of the family of genes involved in oocyte and follicular atresia should allow a better understanding of premature ovarian failure. Up to now, the better care for those patients is to give them hormonal replacement therapy and suggest oocyte donation when they desire to be pregnant.
 ...
PMID:[Genes and ovarian insufficiency]. 1045 83

Premature ovarian failure is defined as amenorrhea with hypo-oestrogenism and elevated gonadotrophins occurring before the age of 40 years. In theory, ovarian failure may occur because of a decreased pool of primordial follicles, because ovarian apoptosis is increased or accelerated or because the follicle maturation is interrupted before the preovulatory stage. The mechanisms inducing premature ovarian failure have been described in a few number of cases. Atm or c-kit gene mutations induce a very low pool of primordial follicles. In chromosome X abnormalities, chemotherapy, galactosemia and blepharophimosis syndrome apoptosis is increased. Follicle maturation is interrupted in FSH and LH receptor mutations or in autoimmunity. However, in most cases, the etiology remains idiopathic. A better knowledge in genes involved in ovarian apoptosis should enhance our understanding of premature ovarian failure. Meanwhile, the best treatment is to give hormonal replacement therapy and send the patient to oocyte donation program when they desire to be pregnant.
 ...
PMID:[Premature ovarian insufficiency]. 1048 61