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

Anna-Kaisa Anttonen, Ibrahim Mahjneh, Riikka Hämäläinen, Clotilde Lagier-Tourenne, Outi Kopra, Laura Waris, Mikko Anttonen, Tarja Joensuu, Hannu Olavi Kalimo, Anders Paetau, Lisbeth Tranebjaerg, Denys Chaigne, Michel Koenig, Orvar Eeg-Olofsson, Bjarne Udd, Mirja Somer, Hannu Somer, Anna-Elina Lehesjoki

Research output: Contribution to journalArticleScientificpeer-review


We identified the gene underlying Marinesco-Sjogren 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-Sjogren syndrome.
Original languageEnglish
JournalNature Genetics
Pages (from-to)1309-1311
Number of pages3
Publication statusPublished - 2005
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 311 Basic medicine
  • 118 Biological sciences
  • 515 Psychology

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