ABSTRACT
BACKGROUND AND AIMS: Cumulative evidence suggests the involvement of fatty acid synthase (FAS) in tumor growth. We tested the hypothesis that increased FAS activity and gene expression in non-small cell lung cancer (NSCLC) tissue have a prognostic significance that is independent of that of increased lipoprotein lipase (LPL) activity in the same tissue. METHODS: Forty two consecutive patients with resected NSCLC were enrolled in the study. Paired samples of lung cancer tissue and adjacent non-cancer lung tissue were collected from resected specimens for estimation of FAS activity and expression of its gene. LPL activity had previously been measured in the same tissues. During a 4-year follow-up, 21 patients died due to tumor progression. One patient died due to a non-cancer reason and was not included in the analysis. RESULTS: High FAS activity in cancerous tissue relative to that in the adjacent non-cancer lung tissue was associated with weight loss in the 3 months immediately before tumor excision and patient death during the follow-up. Higher FAS activity in the cancer tissue was associated with higher LPL activity in the same tissue, which also predicted shorter patient survival, but LPL was the stronger predictor. FAS gene expression was higher in the adjacent non-cancer tissue than in the cancer tissue but had no predictive value. CONCLUSION: Our study further underlines the involvement of cancer tissue FAS activity in tumor growth but also indicates its weaker importance compared to LPL activity.
Subject(s)
Carcinoma, Non-Small-Cell Lung/enzymology , Fatty Acid Synthase, Type I/metabolism , Lipoprotein Lipase/metabolism , Lung Neoplasms/enzymology , Adult , Aged , Carcinoma, Non-Small-Cell Lung/genetics , Fatty Acid Synthase, Type I/genetics , Female , Gene Expression , Humans , Lung Neoplasms/genetics , Male , Middle Aged , Predictive Value of Tests , PrognosisABSTRACT
OBJECTIVES: To analyze a healthy Slovenian population for the frequency of the classical galactosemia allele K285N. DESIGN AND METHODS: DNA was analyzed by means of polymerase chain reaction and restriction fragment length polymorphism. RESULTS: The allele frequency of the K285N mutation in Slovenian population is 0.29%. CONCLUSIONS: The allele frequency of the K285N mutation in Slovenian population is higher than in other Caucasian populations. K285N is one of the most frequent classical galactosemia mutations in the Slovenian population.
Subject(s)
Mutation , UTP-Hexose-1-Phosphate Uridylyltransferase/genetics , Adult , Amino Acid Substitution , Female , Galactosemias/genetics , Gene Frequency , Heterozygote , Humans , Male , Middle Aged , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , SloveniaABSTRACT
We determined the frequency of galactose-1-phosphate uridyl transferase gene mutations: Q188R, K285N, and the Duarte allelle in 86 patients with idiopathic premature ovarian failure (POF) and 95 controls. No association of the mutations with POF was found.
Subject(s)
Alleles , Mutation , Primary Ovarian Insufficiency/enzymology , Primary Ovarian Insufficiency/genetics , UTP-Hexose-1-Phosphate Uridylyltransferase/genetics , Adolescent , Adult , Chi-Square Distribution , Female , HumansABSTRACT
In a retrospective case-control study, the frequencies of Q188R, K285N, N314D, and IVS5-24G>A mutations were determined with the use of polymerase chain reaction and restriction fragment length polymorphism in the group of infertile women and the controls. No statistically significant differences were observed in the allele frequencies between the infertile women and control groups.
