Different expression of the myotonin protein kinase gene in discrete areas of human brain.

ABSTRACT

We have examined the myotonin protein kinase (MT-PK) gene expression in different human brain areas. Four different spliced forms, comprising exons 13 and 14, were identified and characterized. One form (MYOT-A), lacking the entire exon 13, had not been detected in other studies and it is likely to be a brain-specific transcript. Different brain areas show a specific transcription pattern. These results suggest that MT-PK may have specialized functions in different areas of central nervous system. Alterations of this complex expression pattern could be responsible for the mental status impairment observed in myotonic dystrophy patients.