An axon regeneration signature in a Charcot-Marie-Tooth disease type 2 patient.

ABSTRACT: Charcot-Marie-Tooth disease (CMT) is one of the most common inherited peripheral neuropathies. The underlying mutations in demyelinating forms tend to affect genes expressed in Schwann cells (CMT types 1, 3, and 4), while axonal forms of the disease usually have their origins in genes expressed in the affected neurons (CMT type 2). Repeated rounds of nerve degeneration and regeneration characterize CMT2, but evidence for regeneration has not been demonstrated at a molecular level. Subtractive hybridization was performed on sural nerve biopsies from a patient presenting an axonal form of CMT and an unaffected sibling, which revealed an overexpression of genes associated with the regeneration of axons, including PMP22, SPARC/osteonectin, CD9, CD44, EEF1A1, and gamma-actin. These results sugg

SUBMITTER: Cavalcanti F 

PROVIDER: S-EPMC2716698 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature