Teepu
Siddique, MD
Professor
Department of Neurology
To contact Dr. Siddique:
Phone: 312-503-4737
E-mail: t-siddique@northwestern.edu
Dr. Siddique's website
PubMed
Reference Lookup
Research Interests
Dr. Siddique's laboratory
is studying disorders of the human neurodegeneration. The focus of their research
is on the prototypic neurodegenerative disorders of the upper and lower motor
neuron, such as amyotrophic lateral sclerosis (ALS), the spinal muscular atrophies
(SMA) and familial spastic paraplegias (FSP). These disorders affect both
the upper and lower motor neuron (ALS), the lower motor neuron only (SMA)
and primarily the upper motor neuron (FSP).
They have used the tools
of molecular genetics, cell biology and clinical neurology to establish loci
of dominant and recessive amyotrophic lateral sclerosis, autosomal recessive
and dominant spastic paraplegias and identified mutations in the gene for
Cu,Zn superoxide dismutase in families with familial amyotrophic lateral sclerosis.
Their transgenic mouse model, over expressing the mutant but not the wild
type SOD1 results in degeneration of motor neurons and suggests a toxic gain
of function of mutant SOD1 as a cause of ALS. Recently, they have shown that
the entire SOD1 molecule is not necessary for its toxic function. In addition,
a genetic locus for dominant ALS has been identified on the X-chromosome.
They have cloned, the human a-tocopherol transport gene and identified its chromosomal localization. Mutations in this gene result in a syndrome of ataxia and neuronal degeneration. The relationship of vitamin E to neuronal degeneration is under investigation. Work on genes causing scapuloperoned muscular atrophy and dominantly inherited mitrochondrial myopathy is also underway. Their work is thus focused on understanding the pathogenesis of neurodegeneration and bridging the gap between the laboratory, clinic, and therapy.