A transgenic rat model of Charcot-Marie-Tooth disease

被引：293

作者：

Sereda, M

Griffiths, I

Puhlhofer, A

Stewart, H

Rossner, MJ

Zimmermann, F

Magyar, JP

Schneider, A

Hund, E

Meinck, HM

Suter, U

Nave, KA

机构：

[1] UNIV HEIDELBERG,ZENTRUM MOLEK BIOL,D-69120 HEIDELBERG,GERMANY

[2] UNIV HEIDELBERG,DEPT NEUROL,D-69120 HEIDELBERG,GERMANY

[3] UNIV GLASGOW,DEPT VET CLIN STUDIES,GLASGOW G61 1QH,LANARK,SCOTLAND

[4] ETH ZURICH,ETH HOENGGERBERG,DEPT CELL BIOL,CH-8093 ZURICH,SWITZERLAND

来源：

NEURON | 1996年 / 16卷 / 05期

关键词：

D O I：

10.1016/S0896-6273(00)80128-2

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy in humans and has been associated with a partial duplication of chromosome 17 (CMT type 1A). We have generated a transgenic rat model of this disease and provide experimental evidence that CMT1A is caused by increased expression of the gene for peripheral myelin protein-22 (PMP22, gas-3). PMP22-transgenic rats develop gait abnormalities caused by a peripheral hypomyelination, Schwann cell hypertrophy (onion bulb formation), and muscle weakness. Reduced nerve conduction velocities closely resemble recordings in human patients with CMT1A. When bred to homozygosity, transgenic animals completely fail to elaborate myelin. We anticipate that the CMT rat model will facilitate the identification of a cellular disease mechanism and serve in the evaluation of potential treatment strategies.

引用

页码：1049 / 1060

页数：12

共 53 条

[31] CHARCOT-MARIE-TOOTH DISEASE - A NEW PARADIGM FOR THE MECHANISM OF INHERITED DISEASE [J].