Evidence of somatic mutations in osteoarthritis

Fredrik Mertens, Eva Pålsson, Anders Lindstrand, Sören Toksvig-Larsen, Sakari Knuutila, Marcelo L. Larramendy, Wa'el El-Rifai, Janusz Limon, Felix Mitelman, Nils Mandahl

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


We examined, cytogenetically and by in situ hybridization (ISH) techniques, the synovia, osteophytes, and articular cartilage from 32 patients with pronounced osteoarthritis (OA), a prevalent form of arthropathy characterized by progressive reduction of articular cartilage, and synovial samples from 17 control patients. In short-term cultures, clonal chromosome aberrations, in particular the gain of chromosomes 7 (+7) and 5 (+5), were found to be strongly associated with OA. These aberrations were found in almost 90% of the cultures from synovia and osteophytes, whereas only 1/11 synovial samples from joints unequivocally unaffected by OA had cells with +5 or +7. The in vivo nature of trisomy 7 was demonstrated by ISH on uncultured cells, and serial passaging showed that cells with +7 had proliferative advantage in vitro. Thus, the combined data indicate that cells with somatic mutations appear early and may be influential in the disease process leading to OA.

Original languageEnglish (US)
Pages (from-to)651-656
Number of pages6
JournalHuman Genetics
Issue number6
StatePublished - Dec 1 1996
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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