Dr. Paul Chapple’s group have just published a paper in the scientific journal Human Molecular Genetics that further investigated what is wrong with mitochondria in cells that lack the ARSACS protein sacsin. The research identifies that mitochondria in cells from ARSACS patients have reduced activity of a metabolic pathway that uses enzymes to oxidise nutrients and produce cellular energy. They also express higher levels of genes involved in pathways that deal with mitochondrial damage. A possible mechanism for this decline in mitochondrial health is that a protein called Drp1, which is responsible for the separation of damaged parts of mitochondria from the mitochondrial network, is less efficiently recruited to mitochondria in cells lacking functional sacsin. A reduction in Drp1 mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay.
Teisha Y. Bradshaw; Lisa E.L. Romano; Emma J. Duncan; Suran Nethisinghe; Rosella Abeti; Gregory J. Michael ; Paola Giunti; Sascha Vermeer; J. Paul Chapple. Human Molecular Genetics 2016; doi: 10.1093/hmg/ddw173
Mrs. Emma Duncan a student in Professor Paul Chapple’s laboratory at Queen Mary University of London, who was partly funded by the ARSACS Foundation, successfully passed her PhD examination. Mrs Duncan’s thesis on ‘The Neurodegenerative Disease Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Cellular Defects Due To Loss of Sacsin Function’ used cells grown from skin biopsies of Dutch and British ARSACS patients as a model system to investigate the molecular pathogenesis of the disease. The findings further implicate problems with mitochondria, which act as the cells power plant, and the cytoskeleton, which regulates cellular shape and transport.
The 15 research projects to be funded by the Foundation in 2016-2017 will be announced during the week of July 11, 2016.
The 4 th International ARSACS Symposium will be held at the Neuro in Montreal on November 10 and 11, 2016 under the theme ” Mitochondrial and cytoskeletal dysfunctions in ARSACS and other neurodegenerative diseases”. Details to come.
“Cakes and Pastries” fundraising event held in May at the Duvernay Branch of RBC in Laval raised $ 356.15 for the Foundation. Thanks to Karo Gagné and her team and to the donators .
“Characterizing and Ameliorating Axonal Transport Defects in ARSACS Mice” – Progress report of Dr. Schwarz’s research project funded by the Foundation for 2015-2016.
“Elucidating Sacsin Function through Genetic Interaction Maps” – Progress report of Dr. Babu’s research project, funded by the Foundation for 2015-2016.
“Role of Neurofilaments and Mitochondria in the Pathogenic Cascade of ARSACS: Relevant Biomarkers for Therapeutic Development” – Progress report of Dr. Durham’s research project, funded by the Foundation for 2015-2016.