title: [Promoters of genes MTHFR from patients with hyperhomocysteinemia and PTEN from patients with malignant and benign endometrial and ovarian tumors].
abstract: Mutational changes in the promoter regions of MTHFR genes from patients with hyperhomocysteinemia and PTEN genes from patients with endometrial and ovarian tumors were studied. An increased level of homocysteine was found in a part of the patients with a heterozygous C677T mutation in the MTHFR gene, although a moderate hyperhomocysteinemia is usually associated with homozygous mutation. We hypothesized that, in this case, the allele lacking the C677T mutation may be inactivated by the promoter mutation. The sequencing of both DNA strands of the minimal promoter region of the MTHFR gene in ten patients did not reveal any mutation, which implied another mechanism of the development of hyperhomocysteinemia in these patients. A PCR analysis of the minimal promoter region of the tumor suppressor PTEN in the presence of 2-pyrrolidone in 101 patients from Moscow clinics revealed changes in it in patients with endometrial (56%) or ovarian (29%) cancer, as well as in patients with endometrial hyperplasia and benign ovarian tumors (34.6 and 29%, respectively). It was presumed that the found PTEN gene promoters may arise from epigenetic alterations (erroneous methylation) or may (more rarely) be induced by mutations. As a result of the studies, new molecular markers associated with endometrial and ovarian tumors were revealed and a simple and effective method of detection of these markers was developed.
authors.forename: T F
authors.initials: TF
authors.lastname: Kovalenko
authors.forename: O V
authors.initials: OV
authors.lastname: Vaniusheva
authors.forename: I A
authors.initials: IA
authors.lastname: Shilov
authors.forename: D V
authors.initials: DV
authors.lastname: Sosin
authors.forename: A S
authors.initials: AS
authors.lastname: Sukhoverkhova
authors.forename: T V
authors.initials: TV
authors.lastname: Kozlova
authors.forename: I N
authors.initials: IN
authors.lastname: Bokarev
authors.forename: A V
authors.initials: AV
authors.lastname: Sorokina
authors.forename: L A
authors.initials: LA
authors.lastname: Ozolinia
authors.forename: L I
authors.initials: LI
authors.lastname: Patrushev
mesh_terms: D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2) / Q000235:genetics*; D015415:Biomarkers; D014408:Biomarkers, Tumor / Q000235:genetics*; D016889:Endometrial Neoplasms / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D020138:Hyperhomocysteinemia / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D010051:Ovarian Neoplasms / Q000201:enzymology / Q000235:genetics*; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011401:Promoter Regions, Genetic
chemical_list: D015415:Biomarkers; D014408:Biomarkers, Tumor; D045103:5,10-Methylenetetrahydrofolate Reductase (FADH2); D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human