Dr. Jennifer Tobin

Dr. Jennifer Tobin was the recipient of the 2009 Marian Kies Award. During her graduate training, Jennifer worked with Dr. Richard H. Myers in Anatomy and Neurobiology at Boston University School of Medicine.

Jennifer’s thesis focus was to evaluate  the gene expression and gene association of microtubule-associated protein tau (MAPT) and sepiapterin reductase (SPR) in Parkinson’s disease (PD).

Microtubule-associated protein tau has been associated with several forms of parkinsonism, including PD. In order to further characterize this association, Jennifer selected 21 single-nucleotide polymorphisms in the MAPT gene region and analyzed their association to PD in the GenePD Study. This lead to the identification of a novel haplotype spanning MAPT and nearby genes STH and KIAA1267 that predicts a significantly increased risk for PD. Alternative splicing of the MAPT gene produces mRNA isoforms with either 3 or 4 repeats of the microtubule-binding domain. Gene expression analysis in post mortem human brain demonstrated that the ratio of 4-repeat to 3-repeat MAPT isoforms, which is increased in other forms of parkinsonism, was significantly higher in PD cases than controls. Additionally, the expression of 4-repeat MAPT, STH, and KIAA127 was significantly increased in PD brains relative to controls. Together these results support roles for MAPT, and possibly STH and KIAA1267, in the pathogenesis of some forms of idiopathic PD.  

The PARK3 locus has been linked to susceptibility for autosomal dominant PD and age at onset of PD. One candidate genes for the PARK3 locus is SPR, which catalyzes the final step of the biosynthesis of tetrahydrobiopterin (BH4), an essential cofactor in the synthesis of dopamine. SPR expression was significantly increased in PD cases relative to controls, however polymorphisms around SPR did not have a significant effect on the level of SPR mRNA expression. While these results were not strong enough to implicate SPR as the PARK3 gene, they merit the further investigation of SPR and the BH4 pathway in the context of PD.  

Jennifer is currently a postdoctoral fellow in the lab of Dr. Regina Armstrong at Uniformed Services University.