neurofilament light mutation research from Japan

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Research Abstract from J Peripher Nerv Syst 2002 Dec;7(4):221-4

Identification of novel sequence variants in the neurofilament-light

gene in a Japanese population: analysis of Charcot-Marie-Tooth disease

patients and normal individuals.

Yoshihara T, Yamamoto M, Hattori N, Misu K, Mori K, Koike H, Sobue G.

Department of Neurology, Nagoya University Graduate School of Medicine,

Japan.

Mutations of the neurofilament-light (NEFL/NF-L) gene were examined in

124 unrelated Japanese patients with Charcot-Marie-Tooth disease (CMT)

without known gene mutations, and 248 normal Japanese individuals. A new

method, which can detect basepair mismatches with RNase cleavage on

agarose gel electrophoresis, coupled with DNA

sequencing, identified 8 novel sequence variations in the NF-L gene. In

these sequence variants, 5 variants were polymorphisms, including 3

single nucleotide polymorphisms (SNPs), and 3 other missense mutations

(Pro22Thr, Asn97Ser and Ala148Val) were found in the patients with CMT

phenotype. The variant alleles in the NF-L gene could influence the

developing process of CMT phenotype and also might cause CMT phenotype.