Polymorphisms in the IGF1 signalling pathway including the myostatin gene are associated with left ventricular mass in male athletes.

Background: Athlete's heart as an adaptation to long-time and intensive endurance training can vary considerably between individuals. Genetic polymorphisms in the cardiological relevant insulin-like growth factor 1 (IGF1) signalling pathway seem to have an essential influence on the extent of physiological hypertrophy.

Objective: Analysis of polymorphisms in the genes of IGF1, IGF1 receptor (IGF1R) and the negative regulator of the cardiac IGF1 signalling pathway, myostatin (MSTN), and their relation to left ventricular mass (LVM) of endurance athletes.

Human endogenous retrovirus HERV-K(HML-2) proviruses with Rec protein coding capacity and transcriptional activity.

The human endogenous retrovirus family HERV-K(HML-2) encodes the so-called Rec protein that displays functional similarities to the HIV(REV) protein. The number of proviruses producing Rec protein was hitherto unknown. We therefore analyzed the human genome sequence data and determined seven HERV-K(HML-2) proviruses potentially capable of producing Rec both on the mRNA and the protein level.