Exp Neurobiol 2014; 23(2): 169-172
Published online June 30, 2014
© The Korean Society for Brain and Neural Sciences
Young Bin Hong1#, Sung-Chul Jung2#, Jinho Lee1, Heui-Soo Moon3, Ki Wha Chung4* and Byung-Ok Choi1*
1Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, 2Department of Biochemistry, Ewha Womans University School of Medicine, Seoul 158-710, 3Department of Neurology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul 110-746, 4Department of Biological Science, Kongju National University, Gongju 314-701, Korea
Correspondence to: *To whom correspondence should be addressed.
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Ki Wha Chung
TEL: 82-41-850-8506, FAX: 82-41-850-0957
#Those authors contributed equally to this study
Compared with biochemical information available about the diseases in the central nervous system, that for peripheral neuropathy is quite limited primarily due to the difficulties in obtaining samples. Characterization of the core pathology is a prerequisite to the development of personalized medicine for genetically heterogeneous diseases, such as hereditary motor and sensory neuropathy (HMSN). Here, we first documented the transcriptome profile of distal sural nerve obtained from HMSN patients. RNA-seq analysis revealed that over 12,000 genes are expressed in distal sural nerve. Among them 4,000 transcripts are novel and 10 fusion genes per sample were observed. Comparing dataset from whole exome sequencing revealed that over 1,500 transcriptional base modifications occur during transcription. These data implicate that dynamic alterations are generated when genetic information are transitioned in distal sural nerve. Although, we could not find significant alterations associated with HMSN, these data might provide crucial information about the pathophysiology of HMSN. Therefore, next step in the development of therapeutic strategy for HMSN might be unveiling biochemical and biophysical abnormalities derived from those potent variation.
Keywords: hereditary motor and sensory neuropathy (HMSN), peripheral nervous system (PNS), distal sural nerve, transcriptome