Association between the PPARGC1A polymorphism and aerobic capacity in Japanese middle-aged men.

OBJECTIVE: A lower frequency for the peroxisome proliferator-activated receptor γ coactivator 1α (PPARGC1A) Ser482 allele has been reported in elite-level endurance athletes among Caucasians, although this gene polymorphism has not been found to be associated with aerobic capacity in German, Dutch or Chinese populations. The purpose of the current study was to examine the associations between the Gly482Ser polymorphism and aerobic fitness in 112 Japanese middle-aged men. METHODS: The PPARGC1A Gly482Ser polymorphism was identified according to a TaqMan(®) SNP genotyping assay. Habitual physical activity was objectively measured using an accelerometer. The lactate threshold (LT), an index of aerobic fitness, was measured based on a submaximal graded exercise test performed on an electric cycle ergometer. The association between the LT and the Gly482Ser polymorphism was assessed according to a multiple regression analysis and analysis of covariance, with adjustment for potential confounders (age, body mass index, cigarette smoking, physical activity level and regular exercise). RESULTS: A significant association was observed between the PPARGC1A Gly482Ser polymorphism and LT, as carriers of the Ser482 had higher LT values than the Gly482 carriers. CONCLUSION: The current results suggest that the PPARGC1A Ser482 allele is associated with a higher aerobic capacity in Japanese middle-aged men.

SLC26A3 gene analysis in patients with Bartter and Gitelman syndromes and the clinical characteristics of patients with unidentified mutations.

We analyzed the SLC26A3 gene in patients with a clinical diagnosis of Bartter and Gitelman syndromes in whom genetic diagnoses could not be determined. We also examined the genetic and clinical characteristics of patients for whom genetic proof could not be obtained. The present study included 10 patients. With regard to genetic characteristics, 1 patient harbored a heterozygous mutation in the SLC12A3 gene (c.2573T>A, p.L858H), which was also reported in a previous report. With regard to clinical characteristics, 3 patients had abnormalities that were identified incidentally during medical examinations and other illnesses and 1 patient had polyhydramnios. One case of nephrocalcinosis was also noted. Eight patients were of below average height. Although we analyzed the SLC26A3 gene in these 10 patients, none were found to have pathological mutations. Investigation of the outcomes of these cases showed that examination findings had normalized and medication was no longer necessary for 3 patients, whereas hypokalemia and metabolic alkalosis were observed in another patient only in the presence of acute disease. We concluded that few patients develop illnesses because of SLC26A3 mutations. Other disease-related genes may also be involved. Although hypokalemia and metabolic alkalosis are clinical characteristics of Bartter and Gitelman syndromes, many other conditions also present such symptoms, and thus, differential diagnosis is of paramount importance.