Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia

Article Abstract:

Osteoarthritis is a joint disease marked by deterioration of cartilage at the joints and the abnormal growth of adjacent bone. It occurs primarily in the elderly, and may have many causes. In some families, however, the disease is clearly inherited. After completing a thorough examination of three generations of one such family, it was found that osteoarthritis was linked to the gene for type II collagen (COL2A1), a protein which is a major constituent of bone and cartilage. It was also found that many of the family members had mild chondrodysplasia, which is a proliferation of cartilage cells in the head of a bone. The distinction between osteoarthritis and chondrodysplasia may be only one of severity, and the underlying molecular defect may be the same in both cases. Several other studies have linked different joint diseases to COL2A1, such as Stickler syndrome (hereditary progressive arthro-ophthalmopathy) and spondyloepiphyseal dysplasia. Numerous other inherited joint diseases, such as spondyloepiphyseal dysplasia congenita, achondroplasia, and multiple epiphyseal dysplasia, are not linked to this gene. (Consumer Summary produced by Reliance Medical Information, Inc.)

Case studies, Osteoarthritis, Genetic disorders, Genetic polymorphisms

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Mutations in collagen genes as a cause of connective-tissue diseases

Article Abstract:

Mutations in collagen genes may cause several common connective tissue diseases. Collagen is a protein that is part of skin, tendons, bones, blood vessels and other connective tissues. There are 15 types of collagen, and different tissues have different types of collagen. The protein is made up of three amino acid strands wound together in a helix, and is synthesized in a long and complex process. Mutations in collage genes have been found in patients with osteogenesis imperfecta, chondrodysplasias and Ehlers-Danlos syndrome. Laboratory mice with mutated collagen genes from osteogenesis imperfecta and chondrodysplasias patients have the same symptoms as humans with these diseases. Mutated collagen genes may also cause osteoporosis, osteoarthritis and aortic aneurysms. New treatments for these diseases, if they are genetic, could include gene therapy, prenatal diagnosis and preventative therapy.

Collagen, Connective tissue diseases

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Targeting gene therapy for osteogenesis imperfecta

Article Abstract:

The potential dangers of the direct administration of adenoviruses and other viruses to patients are discussed. This is explained with cases from lymphocytic leukemia affected patients.

Science & research, Care and treatment, Research, Osteogenesis imperfecta, Gene therapy, Adenoviruses, Lymphocytic leukemia

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