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Schwann Cell Biology and Inherited Diseases of the Peripheral Nervous System

Jun Li
Professor of Neurology
615-343-4016 (lab)

Dr. Li is interested in Inherited Neuropathies (also called Charcot-Marie-Tooth disease or CMT) and Myelin Biology. Disabilities in many neurological diseases, including inherited neuropathies and motor neuron diseases, are usually caused by one of the two pathophysiological processes: conduction block and/or axonal degeneration. His laboratory investigates the molecular mechanisms of the two processes in a variety of biological systems. These systems include primary culture neurons/Schwann cells, genetically manipulated rodent models, and human subjects with inherited neuropathies. This approach allows the lab to not only understand the diseases better, but also provides an opportunity to observe the basic functions of specific genes and their coded proteins in-vitro, in animals, and in humans. Dr. Li evaluates his patients in the CMT clinic that he directs. Genotypic and phenotypic manifestations of patients are carefully characterized. The characterization is often assisted by non-invasive techniques, such as conventional nerve conduction study, needle EMG, motor unit number estimation (MUNE), skin biopsies, nerve MRI, and neuropathy disability scores. Data derived from these evaluations raise important scientific questions, which are further explored in-vitro and in the related animal models. This is usually achieved by using knockout or transgenic rodents, primary neuronal culture, neuron/Schwann cell co-culture and other molecular biology approaches. These translational approaches have proven to be fruitful given the number of publications produced by the lab.