Malignant osteopetrosis: c-src kinase is not reduced in fibroblasts.

Targeted disruption of the c-src gene leads to a severe form of osteopetrosis in mice [2]. As the c-src gene is expressed in all tissues and cells tested, we have analyzed fibroblasts from three individuals with malignant, congenital osteopetrosis for the expression of c-src at the protein level. No differences could be detected in c-src protein and c-src kinase activity levels between fibroblasts from healthy controls and affected individuals. Thus, impairment of c-src function as an etiological factor in human osteopetrosis appears unlikely in the individuals investigated.