2. Academic Validation
  3. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone

  • Nat Genet. 2005 Dec;37(12):1309-11. doi: 10.1038/ng1677.
Anna-Kaisa Anttonen 1,  Ibrahim Mahjneh,  Riikka H Hämäläinen,  Clotilde Lagier-Tourenne,  Outi Kopra,  Laura Waris,  Mikko Anttonen,  Tarja Joensuu,  Hannu Kalimo,  Anders Paetau,  Lisbeth Tranebjaerg,  Denys Chaigne,  Michel Koenig,  Orvar Eeg-Olofsson,  Bjarne Udd,  Mirja Somer,  Hannu Somer,  Anna-Elina Lehesjoki
Affiliations

Affiliation

  • 1 Folkhälsan Institute of Genetics and Neuroscience Center, University of Helsinki, PO Box 63, FI-00014 Helsinki, Finland.
PMID: 16282978 DOI: 10.1038/ng1677
Abstract

We identified the gene underlying Marinesco-Sjögren syndrome, which is characterized by cerebellar ataxia, progressive myopathy and cataracts. We identified four disease-associated, predicted loss-of-function mutations in SIL1, which encodes a nucleotide exchange factor for the heat-shock protein 70 (HSP70) chaperone HSPA5. These data, together with the similar spatial and temporal patterns of tissue expression of Sil1 and HSPA5, suggest that disturbed SIL1-HSPA5 interaction and protein folding is the primary pathology in Marinesco-Sjögren syndrome.

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