David Andrew Pearce, Ph.D.

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Batten disease is one of the more common childhood neurodegenerative diseases. Children with this disease usually suffer visual failure, psychomotor deterioration, seizures and premature death. Although the underlying defect to this disease, a defective CLN3 gene, was first identified in 1995, very little progress has been made in understanding Cln3p function and how a defective Cln3p causes Batten disease. Individuals with Batten disease exhibit accumulation of lipopigments in the lysosome, predominantly the proteolipid, mitochondrial ATPase subunit c, leading people to believe that the turnover of this protein is somehow affected. Our lab has cloned the yeast homolog to Cln3p, designated Btn1p, and has established that this protein is not involved in the degradation of mitochondrial proteins. We have established that vaculolar/lysosomal pH regulation is altered in yeast strains lacking Btn1p. We are using the numerous genetic techniques available to a yeast molecular biologist to study the function of Btn1p, which can then be applied to understanding Batten disease.

We are also studying a mouse that lacks the mouse equivalent of CLN3, and are in the process of characterizing the degeneration specific to lacking this protein, utilizing a variety of histological and molecular biological techniques including microarray studies.

Current Appointments

• Adjunct Associate Professor -

Education
PhD Biochemistry	UK-University of Bath	1989
BS Biological Science	UK - Non-Medical School	1986

Recent Journal Articles
Showing the 5 most recent journal articles. (81 available)
Chan, C. H.; Ramirez-Montealegre, D.; Pearce, D. A.;. "Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease". Neuropathol Appl Neurobiol 35 (2009): 189-207.
Osorio, N. S.; Sampaio-Marques, B.; Chan, C. H.; Oliveira, P.; Pearce, D. A.; Sousa, N.; Rodrigues, F.;. "Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease". Genes Brain Behav 8 (2009): 337-45.
Weimer, J. M.; Benedict, J. W.; Getty, A. L.; Pontikis, C. C.; Lim, M. J.; Cooper, J. D.; Pearce, D. A.;. "Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis". Brain Res 1266 (2009): 93-107.
Osorio, N. S.; Sampaio-Marques, B.; Chan, C. H.; Oliveira, P.; Pearce, D. A.; Sousa, N.; Rodrigues, F.;. "Neurodevelopmental delay in the Cln3(triangle upex7/8) mouse model for Batten disease". Genes Brain Behav (2009).
Benedict, J. W.; Getty, A. L.; Wishart, T. M.; Gillingwater, T. H.; Pearce, D. A.;. "Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2". J Neurosci Res 87 (2009): 2157-66.