Ongoing Study
Dr. Eric Morrow, a professor at Brown University and director of the Center for Translational Neuroscience at the Carney Institute for Brain Science, is working to develop a treatment for GPT2 Deficiency. His laboratory was part of a team that discovered the cause of this disease, and they currently are working on necessary pre-clinical studies aimed at identifying a cure.
GPT2 Deficiency is a genetic metabolic disease, which may be treatable through dietary changes and supplements. Their hope is to be able to quickly intervene with a treatment and prevent neurological degeneration in diagnosed individuals.
“These studies are in both primary mouse neurons, as well as in human neurons (from stem cells) in order to translate advances back to the human context. Our lab has a strong and multidisciplinary team permitting a powerful integrated translational approach, bridging patient-oriented studies to experimental models.”
Journal Articles
Baytas O, Davidson SM, DeBerardinis RJ, Morrow EM. Mitochondrial enzyme GPT2 regulates metabolic mechanisms required for neuron growth and motor function in vivo. Hum Mol Genet. 2022;31(4):587-603. doi:10.1093/hmg/ddab269 https://pubmed.ncbi.nlm.nih.gov/34519342/
Binaafar S, Razmara E, Mahdieh N, Sahebjame H, Tavasoli AR, Garshasbi M. A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family. Eur J Med Genet. 2020;63(5):103853. doi:10.1016/j.ejmg.2020.103853 https://pubmed.ncbi.nlm.nih.gov/31978613/
Ouyang Q, Kavanaugh BC, Joesch-Cohen L, et al. GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates. Hum Genet. 2019;138(10):1183-1200. doi:10.1007/s00439-019-02057-x https://pubmed.ncbi.nlm.nih.gov/31471722/
Hengel H, Keimer R, Deigendesch W, et al. GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. Clin Genet. 2018;94(3-4):356-361. doi:10.1111/cge.13390 https://pubmed.ncbi.nlm.nih.gov/29882329/
Baytaş O, Morrow EM. The Role of Mitochondrial Glutamate Metabolism in Cognitive Development and Disease. Neuropsychopharmacology. 2018;43(1):229-230. doi:10.1038/npp.2017.202 https://pubmed.ncbi.nlm.nih.gov/29192671/
Ouyang Q, Nakayama T, Baytas O, et al. Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features. Proc Natl Acad Sci U S A. 2016;113(38):E5598-E5607. doi:10.1073/pnas.1609221113 https://pubmed.ncbi.nlm.nih.gov/27601654/
Lobo-Prada T, Sticht H, Bogantes-Ledezma S, et al. A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa Rica. JIMD Rep. 2017;36:59-66. doi:10.1007/8904_2016_40 https://pubmed.ncbi.nlm.nih.gov/28130718/
Celis K, Shuldiner S, Haverfield EV, et al. Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. J Inherit Metab Dis. 2015;38(5):941-948. doi:10.1007/s10545-015-9824-x https://pubmed.ncbi.nlm.nih.gov/25758935/