Technical Reference #847

847.

Mitochondrial Fusion And Function In Charcot–Marie–Tooth Type 2A Patient Fibroblasts With Mitofusin 2 Mutations Elizabeth A. Amiott a; Paul Lott b;1; Jamie Soto c; Peter B. Kang d; J. Michael McCaffery e; Salvatore DiMauro f; E. Dale Abel c; Kevin M. Flanigan b; Victoria H. Lawson b;⁎;2; Janet M. Shaw, University of Utah, Experimental Neurology, 211(847), (2008)
Link To Paper

Abstract:
Charcot–Marie–Tooth Type 2A is a dominantly inherited peripheral neuropathy characterized by axonal degeneration of sensory and motornerves. The disease is caused by mutations in the mitochondrial fusion gene MFN2. Mfn2 is an integral outer mitochondria

Keywords:
CMT2A; Peripheral neuropathy; Mitochondria; Mitofusin; Mfn2; Mfn1; GTPase; Membrane fusion; Fibroblasts

Materials & Methods:
Approximately 10000 cells per population were plated on 35 mm poly-D-lysine coated glass-bottom culture dishes (MatTek Corp.)

Microscopic Technique
Confocal Microscopy

Cell Type(s)
Primary fibroblast cultures