Seminar Speaker – Laura Feltri, M.D.
Event Date & TimeMay 20, 2019
Laura Feltri, M.D.
Dept. of Biochemistry
University of Buffalo
“Different cell types drive neurodegeneration in Krabbe leukodystrophy.”
Videoconference to AT&T 1.120
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About the Speaker(s)
Globoid cells Leukodystrophy (GLD) is a fatal lysosomal storage disease characterized by demyelination and neurodegeneration in the CNS and PNS and due to recessive mutations in the galactosylceramidase (GALC) gene. GALC is present in all cell types and catabolizes galactosylceramide, a major membrane and myelin lipid, and psychosine, a cytotoxic lipid. Psychosine accumulates in tissues and contributes to GLD by killing myelin-forming glia and neurons (psychosine hypothesis), however, which cells secrete psychosine, if neurons are affected directly or as a consequence of demyelination and whether psychosine is the only culprit is unclear. Similarly, the role of the pathognomonic globoid cells is controversial. Hematopoietic stem cell transplantation (HSCT) slows progression, presumably by cross-correction, the uptake by myelinating glia of GALC secreted by donor cells. It is unclear if cross-correction happens efficiently in vivo and which cell type need to be corrected. I will describe a recently developed conditional Galc floxed mice that has been instrumental in resolving some of these issues.