Type 4C Research from Japan

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Research Abstract from Int J Mol Med 2003 Jan;11(1):45-7

The kinesin superfamily protein Rab6KIFL is not involved in the

pathophysiology of Charcot-Marie-Tooth disease type 4C.

Nagura M, Nagao Y, Takita J, Igarashi T, LeGuern E, Hayashi Y.

Department of Pediatrics, Graduate School of Medicine, University of

Tokyo, Bunkyo-ku, Tokyo 113-8655, Japan.

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive

peripheral neuropathy reported in several Algerian families. The gene

locus of this disease has been narrowed to 5q31-33. Recently, a missense

mutation in the gene for the kinesin superfamily KIF1B was reported as

the cause of Charcot Marie Tooth disease type 2A (CMT2A).

We suspected that Rab6KIFL, one of the kinesin superfamily proteins,

might be involved in the pathophysiology of CMT4C, because Rab6KIFL gene

is located in 5q31. The coding regions of the Rab6KIFL gene of genomic

DNA derived from one Algerian family with CMT4C were analyzed by direct

sequencing. No mutation in Rab6KIFL gene was found in this family.

Further investigation is necessary to identify the causative gene for

CMT4C.