Evidence of somatic mutations in osteoarthritis
| Autor: | Fredrik Mertens, Anders Lindstrand, Marcelo L. Larramendy, Felix Mitelman, Janusz Limon, Nils Mandahl, Wael El-Rifai, Sakari Knuutila, Eva Pålsson, Sören Toksvig-Larsen |
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| Rok vydání: | 1996 |
| Předmět: |
Adult
Male medicine.medical_specialty Pathology Somatic cell Aneuploidy Trisomy In situ hybridization Osteoarthritis Biology 03 medical and health sciences 0302 clinical medicine Germline mutation Genetics medicine Humans Cells Cultured In Situ Hybridization Genetics (clinical) Aged 030304 developmental biology Aged 80 and over Chromosome 7 (human) 0303 health sciences Synovial Membrane Cytogenetics Middle Aged medicine.disease 030220 oncology & carcinogenesis Female Chromosomes Human Pair 7 |
| Zdroj: | Human Genetics. 98:651-656 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s004390050278 |
| Popis: | 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 a 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. |
| Databáze: | OpenAIRE |
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