Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an inherited neurodegenerative disease characterized by early-onset spasticity in the lower limbs, axonal-demyelinating sensorimotor peripheral neuropathy, and cerebellar ataxia. Our understanding of the genetic basis, protein function and disease mechanisms of ARSACS have been only partially explored. The integrative use of organelle-based quantitative proteomics and whole genome analysis proposed in this study, allowed identifying affected pathways, upstream regulators, and disease and biological functions related to ARSACS, with a motivation for setting improved, early diagnostic strategies and to offer alternative treatment options in a rare condition without the cure. Our results deepen the evidence for the impairment of autophagy and mitochondrial dysfunction in SACS knockout lysosomes and mitochondrial compartment, anticipating putative candidate biomarkers related to organelle damage.
[doi:10.25345/C5VG4M]
[dataset license: CC0 1.0 Universal (CC0 1.0)]
Keywords: ARSACS, sacsin, KO models, omics, biomarkers, mitochondria, lysosomes
Principal Investigators: (in alphabetical order) |
Filippo M. Santorelli, IRCCS Fondazione Stella Maris, via dei Giacinti 2, 56128 Pisa, Italy Maciej Lalowski, Helsinki Institute for Life Science (HiLIFE) and Faculty of Medicine, Biochemistry/Developmental Biology, Meilahti Clinical Proteomics Core Facility, University of Helsinki, Helsinki, FI-00014, Finland |
Submitting User: | MaciejLalowski_2 |
Morani F, Doccini S, Galatolo D, Pezzini F, Soliymani R, Simonati A, Lalowski MM, Gemignani F, Santorelli FM.
Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model.
Biomolecules. 2022 Jul 24;12(8):1024. doi: 10.3390/biom12081024.
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