Insulin Sensitivity and Insulin Secretion in Adults With Friedreich's Ataxia: The Role of Skeletal Muscle.

Introduction: Friedreich's ataxia (FRDA) is a multisystem disorder caused by frataxin deficiency. FRDA-related diabetes mellitus (DM) is common. Frataxin supports skeletal muscle mitochondrial oxidative phosphorylation (OXPHOS) capacity, a mediator of insulin sensitivity.

Effects of metformin and leuprolide acetate on insulin resistance and testosterone levels in nondiabetic postmenopausal women: a randomized, placebo-controlled trial.

Objective: To determine whether insulin sensitizers lower androgen levels and whether androgen suppression improves insulin resistance in nondiabetic postmenopausal women.

Design: Randomized, double-blind, placebo-controlled study.

Setting: Clinical and Translational Research Center of a university hospital.

Lack of association between variations in the brain-derived neurotrophic factor (BDNF) gene and temporal lobe epilepsy.

Recently, an association between the C240T polymorphism in the brain-derived neurotrophic factor (BDNF) gene and partial epilepsy was demonstrated in a Japanese population. In this study we attempted to replicate the initial finding in a patient-control population of European ancestry and in addition tested whether the functional Val66Met polymorphism is associated with temporal lobe epilepsy (TLE). Genotypes of 151 TLE patients and 189 controls did not differ significantly for either of the variations.

Recruitment rates and fear of phlebotomy in pediatric patients in a genetic study of epilepsy.

This study examined participation rates and reasons for refusal in a genetic study of human epilepsy. The study enrolled children with epilepsy and their parents, and required signing informed consent, verbalizing assent, and giving a peripheral blood sample. One hundred sixty-eight children met inclusion criteria; 137 agreed to enroll (82%), and 31 refused (18%).

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility.

Purpose: Our research program uses genetic linkage and association analysis to identify human seizure sensitivity and resistance alleles. Quantitative trait loci mapping in mice led to identification of genetic variation in the potassium ion channel gene Kcnj10, implicating it as a putative seizure susceptibility gene. The purpose of this work was to translate these animal model data to a human genetic association study.