Dr. Montie's research program is focused on the neuromuscular disease, spinal and
bulbar muscular atrophy (SBMA, Kennedy's disease). The androgen receptor (AR) is a
nuclear receptor transcription factor that is classically known to govern male sexual
development and secondary sexual characteristics, and it is also highly expressed
in motor neurons and skeletal muscle. SBMA is an X-linked trinucleotide repeat disorder,
and as such, a CAG repeat is expanded in the AR gene, resulting in a polyglutamine
repeat expansion in the AR protein.
In men, this mutation causes adult-onset weakness and atrophy of limb and bulbar (mouth/throat)
muscles, which slowly progresses with age. Dr. Montie's laboratory is investigating
the molecular pathways involved in motor neuron and skeletal muscle dysfunction in
SBMA, with a focus on the role of posttranslational modifications of mutant AR and
metabolic dysfunctions in disease. Utilizing various models of disease to study these
pathways, the overarching goal of Dr. Montie's research is to identify tangible targets
for therapeutic intervention for the treatment of men with SBMA.
Androgen receptor, Polyglutamine, Neurodegeneration, Aggregation, Motor neuron, Prostate