MPZ gene screening should be performed for wide phenotype spectrum of CMT

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Research Abstract from Acta Biochim Pol. 2004;51(1):273-80.

Screening of the myelin protein zero gene in patients with

Charcot-Marie-Tooth disease.

Nowakowski A, Kochanski A.

Agricultural University, Interdisciplinary Department of Biotechnology,

Warszawa, Poland.

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.