Molecular dissection of the effects of alpha-actinin-3 deficiency on normal variation in skeletal muscle function

我们将研究一种常见的基因变异影响普通人群中肌肉体积、肌肉力量和肌肉代谢效率的机制。影响骨骼肌功能的常见基因变异具有重大的潜在公共卫生影响，因为它们可能影响个人对运动和饮食的反应，并导致老年人易患肥胖症、糖尿病和肌肉力量丧失等常见疾病。此外，识别影响脊椎动物肌肉体积的遗传因素对绵羊和牛的育种计划具有重要意义，并可能为畜牧业提供商业利益。

We will study the mechanisms by which a common genetic variant influences muscle bulk, muscle strength and the metabolic efficiency of muscle in the general population. Common genetic variants that influence skeletal muscle function have major potential public health implications as they are likely to influence individuals' response to exercise and diet, and to contribute to susceptibility to common diseases such as obesity, diabetes, and the loss of muscle strength in the elderly. In addition, the identification of genetic factors that influence muscle bulk in vertebrates has implications for breeding programs in sheep and cattle and may provide commercial benefit to the livestock industry.