The use of buccal cells for rapid diagnosis of myotonic dystrophy type 1

Ian Holt, Ros Quinlivan, Jillian Couto, Darren Monckton, Glenn Morris
2010 Translational Neuroscience  
AbstractType 1 myotonic dystrophy (DM1) is an autosomal dominant disorder caused by a CTG repeat expansion. RNA containing expanded CUG repeats does not leave the nucleus, but accumulates in discrete nuclear foci which sequester the human muscleblind-like (MBNL) proteins. We have examined buccal cells from 15 adult DM1 patients and 7 control non-DM patients to determine whether nuclear foci can be detected by either immunostaining for MBNL1 protein or fluorescent in situ hybridisation (FISH)
more » ... idisation (FISH) for the CUG repeat RNA. Both methods detected nuclear foci in all three early-onset patients, but only in a minority of 12 less severe DM1 patients. There were no false-positive results in the 7 controls. Although the method does not reliably identify all DM1 patients, it may prove useful as a rapid test for severe congenital DM1 in floppy babies.
doi:10.2478/v10134-010-0029-4 fatcat:sfiyskog3bfbfjwzhnlgncu25i