Guy Lenk, Research Investigator - Meisler Laboratory Department of Human Genetics, University of Michigan Medical School
Peripheral neuropathies are diseases that affect the nerves supplying voluntary muscle activity such as swallowing, walking and talking. One common inherited form of peripheral neuropathy is Charcot-Marie-Tooth (CMT) disease, named for the three doctors that discovered it in the late 1800s. CMT disease affects 1 out of 2,500 people in the US. The image here is a cell that lacks the FIG4 gene, which is mutated in some CMT patients. The absence of FIG4 interferes with the transport of cellular vesicles, leading to accumulation of empty vesicles that look like “bubbles” in this image. The Meisler lab is testing treatments to eliminate these bubbles, as models of therapy for human CMT patients.