Document Type

Plan B - Open Access

Award Date


Degree Name

Master of Science (MS)


Biology and Microbiology

First Advisor

Greg Heiberger


Charcot-Marie-Tooth disease (CMT) is a group of hereditary peripheral neuropathies that can result from defects in a wide spectrum of genes. Some of these genetic defects disrupt mitochondrial fusion and fission in the peripheral neurons, ultimately leading poor axonal transport, which is one of the two major cellular phenotypes associated with CMT. While the mechanisms of how these mutated genes lead to disrupted axonal transport are not entirely understood, knowledge on this process, and the genes involved, has expanded substantially in the past decade. Currently, there is no cure for any form of CMT, and most treatments focuses on symptom management. The purpose of this paper is to provide an overview on the genetic and molecular mechanisms by which this form of CMT manifests, and to discuss potential directions for future research on treatments for mitochondrial CMT.


South Dakota State University


© 2022 Tristan Carivau