Dalmo Mendonca Neuroscience April 1st 2011 Overview What is up with polyglutamine Cerebellar Ataxia amp Digestion Is stem cell treatment within our reach Polyglutamine Alone Mutations that cause repeat ID: 774812
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Slide1
Cerebellar AtaxiaSpecial Topics
Dalmo
Mendonca
Neuroscience
April 1st, 2011
Slide2Overview
What is up with polyglutamine?Cerebellar Ataxia & Digestion?Is stem cell treatment within our reach?
Slide3Polyglutamine Alone?
Mutations that cause repeat Gln in ATXN1Huntington’s, SCA-1, other diseasesKnockout mice with polyglutamine seq.No ataxia! (at least not immediately)How is ATXN1 being regulated?Answer: Phosphorylation of Ser(776)
Slide4Food & Ataxia
Gluten Sensitivity & Celiac Disease
Inappropriate autoimmune response
Usually manifested in the intestines
In some patients, gluten ingestion can impair the cerebellum and kill Purkinje cells
Refsum
Disease
Inability to digest
phytanic
acid
Accumulation
Plaque Neuropathy
Seen in last week’s episode of
House
Slide5Food & Ataxia: Refsum
Slide6Stem Cell Treatment
Purkinje cell death leads to ataxiaGet new ones!Embryonic stem cells is an optionDone in miceInsulin, cyclopamine, & fibroblast GF1Secret recipe for mature Purkinje cellsResults in as little as one weekWhere do we go from here?
Slide7References
Serine 776 of Ataxin-1 Is Critical for
Polyglutamine
-Induced Disease in
SCA1
Transgenic
Mice. 2003.
Ataxia with loss of Purkinje cells in a mouse model for
Refsum
disease
.
Ontogeny-recapitulating generation and tissue integration of ES cell–derived Purkinje
cells
Slide8Questions?