Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

Article Abstract:

A missense mutation in the follicle-stimulating hormone receptor (FSHR) gene causes hypergonadotropic ovarian dysgenesis (ODG) in humans. This mutation is in the part of the gene which encodes the ligand-binding area of FSHR and the Ala in the 189th position is replaced by Val. Transfected cells containing this mutated gene show a decrease in their ability to bind ligands, conduct signals and produce cyclic adenosine 3',5-monophosphate. This mutation is inherited as a recessive character and causes ODG by disturbing the movement of the FSHR to the cell surface or its degradation.

Research, Hormone receptors, Ovaries

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The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of Apc-Min-induced intestinal neoplasia

Article Abstract:

The multiple intestinal neoplasia (Min) strain of mice has a mutation in the homolog of the human adenoamatous polyposis coli gene and develops multiple adenomas in the intestines. Loci studies show that the locus Mom1 (modifier of Min 1) is responsible for the genetic variation in the Min strain and the locus contains the gene which encodes for type II non-pancreatic phospholipase A2 (Pla2s). The Min mice probably do not produce Pla2s which is necessary for either protecting the intestine from dietary fatty acids or for maintaining the intestine's flora.

Adenoma

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Lessons from hereditary colorectal cancer

Article Abstract:

The multi-step neoplasia and tumorigenesis of colorectal cancers such as Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer are mediated by autosomal or genetic mutations. Germline mutations of the adenomatous polyposis coli gene causes FAP in one out of 7,000 individuals. Knowledge on the cytogenetics of colorectal cancers can be utilized for early diagnosis and treatment of the autosomal disorder.

Gene mutations, Gene mutation, Cytogenetics

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