Abstract
Title: Axonopathy in Peripheral Myelin Protein 22 Insufficiency.
Student: Atiq Zamani
Degree: Master of Sciences
College: Sciences and Humanities
Date: July 2010
Pages: 33
The role that various myelin membrane proteins play during development and disease
processes is not well understood. To better understand their role in vivo we have crossed
transgenic mice possessing a single truncated pmp22 gene with mice expressing yellow
fluorescent protein in the cytoplasm of their neurons. The resulting double transgenic mice were
examined by a combination of confocal microscopy, transmission electron microscopy, and
immunohistochemistry to determine if pmp22 insufficiency alters the structural integrity of
myelin, glial cells, axons, or the subcellular milieu of these various components. Axons from
mice with pmp22 insufficiency developed sprouts and debris localized to nodes with no signs of
degeneration of a Wallerian type. Ultrastructurally, the nodes accumulated tubovesicular
structures as well as disrupted cytoskeleton that did not appear to alter axon transport. Together,
these results suggest that pmp22 insufficiency leads to a non-lethal axonopathy that is restricted
to nodes.