Dr. Jun Li's research has two arms – basic science studies in laboratory and clinical research. The research in our lab focuses on a better understanding of myelin biology and its mechanistic applications in inherited peripheral nervous diseases and therapeutic development. Clinical presentation of patients with Charcot-Marie-Tooth (CMT) diseases typically includes distal muscle weakness, sensory loss, foot deformities and absent deep tendon reflexes. CMT has been classified into several categories based on electrophysiological and pathological changes in the nerves and the array of genetic causes. Currently, there are over 90 specific genes that are linked with different subtypes of CMT. However, over 20% of diagnosed inherited neuropathies still have no known genetic cause.
For basic studies, we investigate how myelinating Schwann cells interact with axons and how various genetic mutations in inherited peripheral neuropathies alter the molecular signaling between the two types of cells. We hope that these investigations will lead to molecular targets for developing therapeutic interventions.
Currently we are studying several genes and their related CMT disease using multiple in vitro and in vivo models in our lab. One of these genes is described below:
PMP22 – Peripheral Myelin Protein 22 - An autosomal dominant duplication of a 1.4Mb region on chromosome 17.p11.2 containing the PMP22 gene results in Charcot-Marie-Tooth disease type-1A (CMT1A) which affects one out of 5000 people. CMT1A is the most common form of inherited neuropathy. A deletion in the same region of chromosome 17p11.2 causes hereditary neuropathy with liability to pressure palsies (HNPP). Our studies utilize specimens from patients with HNPP, PMP22 knockout mice or primary culture Schwann cells/neurons to understand how the mechanical susceptibility occurs in the HNPP. In addition, we also investigate how over-expression of PMP22 in CMT1A affects myelination and causes axonal loss.
With respect to our clinical studies, Dr. Li directs a CMT clinic that is specifically designated to the patients with inherited peripheral neuropathies. This multi-disciplinary clinic occurs weekly at University Health Center. We are interested in genotype / phenotype correlation, identification of novel genes causing CMT, and use of human skin biopsy as a minimally invasive tool in evaluation of peripheral pathology. In addition, we are a part of the NIH funded Rare Disease Clinical Research Network - Inherited Neuropathies Consortium. If you are interested in our CMT studies, please contact Melody Gilroy at firstname.lastname@example.org or call 313-966-0473. For patients who are interested in visiting our CMT clinic, please call our nurse Theodora Nwamba at 313-966-0473 (email@example.com) for appointment.