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Chapter 21: Trafficking and targeting of connexin32 mutations to gap junctions in Charcot-Marie-Tooth X-linked disease

Martin, Patricia E. M. and Evans, William Howard 1999. Chapter 21: Trafficking and targeting of connexin32 mutations to gap junctions in Charcot-Marie-Tooth X-linked disease. Current Topics in Membranes 49 , pp. 461-481. 10.1016/S0070-2161(08)61025-4

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Abstract

CCharcot-Marie-Tooth (CMT) disease comprises a group of hereditary peripheral neuropathies characterized by motor and sensory neuron defects. The occurrence of CMT is 1:2500 with 10% of all CMT patients from families with the X-linked dominant form of the disease (CMT-X). Ever since it was shown that mutations in the DNA encoding the gap junction protein connexin32 (Cx32) are associated with CMT-X, interest in the clinical manifestations and the underlying fundamental molecular and cellular biology events has increased. This is because gap junctions provide a vital mechanism of direct intercellular communication and signaling, a major contributory factor that ensures well-regulated community behavior in tissues and organs. Modifications in the sequence and the structure of Cx32 are likely to result in changes in the speed of propagation of electrical current in peripheral nerves that appears to be dependent on cell–cell communication. The trafficking and targeting of mutated connexins to the plasma membrane and their assembly into intercellular channels is a fundamental aspect of gap junction biogenesis. Altering the properties of Cx32, thereby impairing its assembly into gap junctional channels, emerges as an important explanation for the pathophysiology of CMT-X disease. It is anticipated that the role of connexins in other inherited disorders will be clarified by genetic linkage and by postgenomic analysis approaches.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: Elsevier
ISSN: 1063-5823
Last Modified: 17 Mar 2021 02:51
URI: https://orca.cardiff.ac.uk/id/eprint/65812

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