by University of Pittsburgh Credit: Pixabay/CC0 Public Domain A rare but potentially debilitating brain disorder finally has a definitive cause, thanks to research teams working on opposite sides of the globe. A mutation in the gene that manages the transportation of zinc, an essential dietary micronutrient, out of cells is responsible for the disorder, called...
by Baylor College of Medicine Misfolded proteins can grow into a variety of aggregate forms, such as soluble aggregates, soluble polymers and insoluble polymers, which may be disposed of via different mechanisms, including unconventional disposal, extracellular vesicles and autophagy. When the cellular disposal mechanisms fail, such aggregates may lead to disease. About 30 years ago, Dr....
Ingo Helbig, MD, is a pediatric neurologist at Children’s Hospital of Philadelphia. Neurology researchers investigating a rare but devastating neurological regression in infants have discovered the cause: gene mutations that severely disrupt crucial functions in mitochondria, the energy-producing structures within cells. The specific disease mechanism, in which mutations disrupt a critical mitochondrial enzyme, has...
