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The Sun Lab, led by Ying Sun, PhD, is
focused on understanding the pathogenesis of Gaucher disease and other
lysosomal storage diseases for development of specific therapies, and the roles
of saposins in glycosphingolipids metabolism and neurodegeneration.
disease is a recessive inherited genetic disease and a common lysosomal
storage disease caused by mutations at the GBA1 locus that lead to insufficient activity of β-glucosidase. The resultant cellular
accumulation of glucosylceramide and glucosylsphingosine in Gaucher disease
initiates pathological processes. Gaucher
disease is classified to three clinical phenotypes: type 1 presents as a
visceral disease that can be treated by enzyme therapy. Types 2 and 3 are
central nervous system (CNS) degenerative diseases of childhood that have no
effective CNS treatment. The GBA1 mutations in the homo- or heterozygote states have been linked to the
neurodegenerative diseases, Parkinson's disease and Lewy body disease. The Sun Lab has
taken approaches including molecular and cellular biology, mouse models, transcriptomic
and lipidomic analyses, and iPSC technology to investigate the disease process
and to conduct preclinical studies. The ultimate goal is to translate the research
discovery to effective therapies for treating Gaucher disease and other neurodegenerative
Saposins are a family of small lysosomal proteins
that act as activator for respective lysosomal glycosphingolipids degrading enzymes.
Their precursor, prosaposin, has neurotrophic function. Dr. Sun ‘s team has demonstrated the tissue specific roles of
saposins in glycosphingolipids metabolism and neurodegeneration using saposin
deficient mouse models. Future studies will be directed to delineate the mechanism
of prosaposin/saposins in neurodegeneration.
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