Washington [US]: Cells require a steady flow of energy to function properly. The cellular metabolism must adjust during starving periods, when no nutrients are absorbed from food, in order to guarantee a steady supply of energy. The findings of the study published in the journal Science.
Researchers from the FMP have gained new insights into this fundamental mechanism in human cells while investigating a rare genetic muscular disorder - X-linked centronuclear myopathy (XLCNM). This disease, which usually affects boys, involves a defective gene on the X chromosome, resulting in a developmental disorder of the skeletal muscles. This muscle weakness is so severe that, in many cases, affected children require ventilatory support and are wheelchair-bound. Affected individuals do not survive beyond the age of 10 to 12 years; in severe cases, they die soon after birth.
