Screening of the myelin protein zero gene in patients with Charcot-Marie-Tooth disease.

• Authors: Adam Nowakowski , Andrzej Kochański
• Languages of publication: EN

Abstracts

EN

The myelin protein zero gene (MPZ) coding for the most abundant protein of the peripheral myelin was shown to be mutated in Charcot-Marie-Tooth type 1B disease (CMT1B). Later on MPZ mutations have been shown in axonal type of CMT (CMT2). Recently three novel MPZ gene mutations were reported in congenital hypomyelinating neuropathy (CHN). In contrast to the previously reported studies, focused on CMT1B disease, we aimed to analyze the coding and promoter sequences of the MPZ gene in a group of patients with three CMT phenotypes i.e.: CMT1, CMT2 and CHN. Over 500 PCR products were screened by single strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA). In one CMT2 family we founded the E56K mutation in the MPZ gene and in one CHN patient the T124K substitution was detected. In agreement with previously reported studies we conclude that MPZ gene screening should be performed for wide phenotype spectrum of CMT.

Keywords

EN

Charcot-Marie-Tooth disease; heteroduplex analysis; MPZ gene; SSCP

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2004
• Volume: 51
• Issue: 1
• Pages: 273-280

Dates

published

2004

received

2003-10-30

revised

2004-02-05

accepted

2004-02-08

Contributors

author

Adam Nowakowski

• Agricultural University, Interdisciplinary Department of Biotechnology, Warszawa, Poland

author

Andrzej Kochański

• Neuromuscular Unit Medical Research Centre, Polish Academy of Sciences, Warszawa, Poland

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