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Primary Research Group
Secondary Research Group
Dr. Pearce Bio
- Executive Vice President of Research, Sanford Health
- Scientist, Children’s Health Research Center
- Professor for the Department of Pediatrics, Sanford School of Medicine of the University of South Dakota
Primary Research Focus
Research in the Pearce Lab is focused on understanding the molecular basis of several inherited pediatric neurodegenerative diseases including the infantile, late infantile and juvenile onset forms of Batten disease. Dr. Pearce and his team use mouse and miniature pig models of these rare, fatal diseases to reveal molecular and cellular pathomechanisms, to identify new therapeutic targets and to test new therapeutic approaches.
Behind the research
Batten disease, also known as Neuronal Ceroid Lipofuscinoses (NCLs), is a group of recessively inherited, fatal lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent lipopigment and progressive neurodegeneration. No treatment is currently available that could halt or slow down the progression of these rare, fatal diseases mostly affecting children. The infantile, late infantile and juvenile onset forms of Batten disease is caused by mutations in the CLN1, CLN2 and CLN3 genes, respectively. CLN1 and CLN2 encode soluble enzymes of the lysosome (the waste disposal/recycling organelle of the cell), whereas CLN3 encodes a transmembrane protein with unknown function, mainly localized in the membrane of lysosomes and endosomes (transporting vesicles in the cell). The Pearce Lab has generated or in the process of generating novel mouse and miniature pig models of infantile, late infantile and juvenile Batten diseases. All these models carry human disease-causing mutations, and after detailed molecular, pathological and neurological characterization, they will be used to test novel therapeutic approaches.
May 2017 Drs. David Pearce and Jill Weimer published a research article in PLoS One characterizing a new mouse model of Cln2-infantile Batten disease which can be used for preclinical screening of nonsense suppression drugs. "A tailored mouse model of CLN2 disease: A nonsense mutant for testing personalized therapies."
April 2017 Drs. David Pearce and Attila Kovács published a research article in the Journal of Cellular Biochemistry studying novel regulatory function of CLN3 which is mutated in the juvenile-onset form of neuronal ceroid lipofuscinosis, a childhood fatal neurodegenerative disorder. "Role of the lysosomal membrane protein, CLN3, in the regulation of cathepsin D activity."
February 2017,David Pearce, PhD, and Attila Kovacs, PhD, authored a research article titled "Decreased sensitivity of palmitoyl protein thioresterase 1-deficient neurons to chemical anoxia" in the journal Metabolic Brain Disease. They found that genetic deficiency in CLN1 is associated with impaired neuron mitochondrial function and may contribute to the pathogenesis of infantile neuronal ceroid lipofuscinosis.
November 2016, Dr. Pearce's laboratory published a paper entitled "Decreased sensitivity of palmitoyl protein thioesterast 1-deficient neurons to chemical anoxia" in the Journal Metabolic Brain Disease. https://www.ncbi.nlm.nih.gov/pubmed/?term=27722792
September 2016, Dr. Attila Kovacs of the Pearce laboratory presented a poster entitled "Altered microbiome changes neurological function in mice: Potential implications for studying neurodegenerative disease" during the Exploring Human Host-Microbiome Interactions in Health and Disease conference in Hinxton, UK.