Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.

Human Molecular Genetics
Jorge A PereiraUeli Suter

Abstract

Some mutations affecting dynamin 2 (DNM2) can cause dominantly inherited Charcot-Marie-Tooth (CMT) neuropathy. Here, we describe the analysis of mice carrying the DNM2 K562E mutation which has been associated with dominant-intermediate CMT type B (CMTDIB). Contrary to our expectations, heterozygous DNM2 K562E mutant mice did not develop definitive signs of an axonal or demyelinating neuropathy. Rather, we found a primary myopathy-like phenotype in these mice. A likely interpretation of these results is that the lack of a neuropathy in this mouse model has allowed the unmasking of a primary myopathy due to the DNM2 K562E mutation which might be overshadowed by the neuropathy in humans. Consequently, we hypothesize that a primary myopathy may also contribute to the disease mechanism in some CMTDIB patients. We propose that these findings should be considered in the evaluation of patients, the determination of the underlying disease processes and the development of tailored potential treatment strategies.

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Datasets Mentioned

BETA
GSE134488

Methods Mentioned

BETA
biopsies
GTPase
GTPases
electron microscopy
biopsy
PCR
FACS
transgenic
FCS
flow cytometry

Key Resources (RRID) Mentioned

IMSR_JAX
AB_477163
AB_322219
AB_2038077
AB_528358
AB_2235587
AB_2147165
AB_2266724
AB_2535811
AB_2535714

Software Mentioned

EdgeR
Ethovision
Qubit
Adobe Illustrator
R package Rsubread
CatWalk XT
Zeiss Zen 2
GraphPad Prism
Ensembl
Trimmomatic

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