ANDROGEN RECEPTOR MESSENGER-RNA WITH INCREASED SIZE OF TANDEM CAG REPEAT IS WIDELY EXPRESSED IN THE NEURAL AND NONNEURAL TISSUES OF X-LINKED RECESSIVE BULBOSPINAL NEURONOPATHY

We detected androgen receptor (AR) mRNA expression in various tissues in the patients with X-BSNP and controls using reverse transcription p olymerase chain reaction (RT-PCR) and Northern blot analysis. The AR m RNAs were expressed in a wide variety of tissues including the testis, scrotal skin, liver, skeletal and cardiac muscles, sciatic nerve, sym pathetic and dorsal root ganglia and spinal cord, and were all abnorma lly elongated in the size of the CAG repeat in the patients. The mutan t AR gene with increased size of tandem CAG repeat was directly transc ribed in various tissues, and would be related to a wide spectrum of p henotypic manifestations in X-BSNP.