Student NameMalavika Nair
Faculty Mentor NameLucia Notterpek
CollegeCollege of Medicine
Research InterestsNeuroscience
OrganizationsMentoring with Children Beyond Our Borders
Hobbies and InterestsRock climbing, piano, hammocking

Research Project

Investigating the mechanism of respiratory dysfunction in the diaphragm of neuropathic mice

We are investigating one of the most common hereditary neuropathies: Charcot-Marie-Tooth disease (CMT), a demyelinating neuropathy of both motor and sensory systems. Various types of CMT diseases are linked to a duplication or misexpression of the PMP22 (peripheral myelin protein) gene, which results in the demyelinating nature of the disease. These myelin abnormalities have multiple physiological impacts on the patient, including muscle weakness, atrophy, and respiratory complications. Mouse models are used to investigate the effects of this neuropathy as they display neurologic deficits similar to human neuropathic patients. Trembler J mice are an established model of severe hereditary neuropathies because they carry the same Leu16Pro mutation in PMP22 which is found in patients with Dejerine-Sottas Syndrome (DSS), a clinically severe, early-onset neuropathy.
By using these mice, we will investigate the respiratory complications that are caused by DSS. Previous research suggests that these respiratory complications can be explained by the axonal degradation of nerves that innervate respiratory muscles. Once the muscle innervations have been compromised, the fibers of the respiratory muscles can atrophy. I will be focusing my analysis effect of neuropathy on the diaphragm portion of the respiratory pathway.