Analysis of peripheral neuropathy in rat cultured nerve introduced mutant IGHMBP2 cDNA.

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Spinal muscular atrophy with respiratory distress type 1 (SMARD1) known as has been reported as a variant form of SMA 1. Responsible gene is immunoglobulin mu-binding protein 2 (IGHMBP2). We identified a new homozygous missense mutation 2685 C→A of IGHMBP2 gene in a first Japanese patient with SMARD 1. First, we made a 2685 C- A IGHMBP2 cDNA by site-directed mutagenesis bases PCR. We made a constructed adeno virus vector contained both wild and 2685 C- A IGHMBP2 cDNAs. We made a cultured rat peripheral nerve using dorsal root of fetal rat. Those cultured nerves were infected by constructed adeno virus vectors. Myelination and axonal sprouting of cultured nerves infected constructed adeno virus vector were observed by immunohistochenistory using anti-Po antibody and electron microscopy. No differences of myelination and axonal changes were observed in cultured nerves infected constructed adeno virus vector containing both a wild and 2685 C- A IGHMBP2. cDNAs. Further more, transgenic mouse containing 2685 C- A IGHMBP2 should be obtained.