Role of Alpha-methylacyl-CoA racemase gene in pathogenecity of CMT patients.

OBJECTIVE: To find the causative mutation by linkage analysisof Charcot-Marie-Tooth disease while focussing on AMACR gene.

METHODS: The case-control study was conducted from November 2016 to March 2017 in Kongju National University Korea.A family of 15 members with composite symptoms of peripheral neuropathy were enrolled. In addition, 50 healthy controls, which had no clinical features and family history of neuromuscular disorders, were also recruited. The family was selected for sequencing analysis by using capillary sequencing. It was sequenced for all the causative genes for CMT disease i.e. PMP22, MPZ, MFN2, GDAP1, NEFL, CX32, MYH14, LMNA, TRPV4, LITAF. Various regions of chromosome were suspected based on the logarithm of the odds score.

RESULTS: Of the 15-member family, 7(47%) were affected and 8(53%)were unaffected. Those unaffected also acted as the controls. A missense mutation was found in exon 1 of the AMACR gene at p.Gly175Asp position. The mutation was also found in some of the unaffected members as well as in the control samples.

CONCLUSIONS: As the mutation was found in the healthy samples as well, it can be said that the current mutation AMACR can be involved in some other forms of peripheral neuropathy which can be with other phenotypes.