Mseleni joint disease: A potential model of epigenetic chondrodysplasia

作者：Gibbon Victoria E^*; Harington John S; Penny Clem B; Fredlund Victor

来源：Joint Bone Spine, 2010, 77(5): 399-404.

DOI：10.1016/j.jbspin.2010.01.013

• Osteoarthritis
• Hip dysplasia
• Protrusio acetabuli
• Mseleni
• Epigenetics
• Chondrodysplasia

Objective: In this paper past research on the natural history of Mseleni joint disease, a crippling endemic osteoarthritis, its socio-economic impacts, the demographics, diet, geology and the genetic background of affected people are reviewed. In addition, some new research ideas are suggested to continue the search for etiological avenues for this disease such as stable isotope analysis and epigenetic mechanisms.
Results: Mseleni joint disease is a chondrodysplasia first described in 1970. It is geographically confined to a remote area in the Maputaland region in northern Kwazulu Natal, South Africa. This disease affects most joints but primarily those of the hip; it is a progressive condition beginning with pain and stiffness until the patient's ability to walk becomes compromised. Mseleni joint disease is characterized by two distinct abnormalities, protrusio acetabuli that mainly affects females and increases in frequency with age, and hip dysplasia that is more frequent with age. Much research has been conducted on the people with the disease and their surrounding environment.
Conclusion: Despite intensive investigations into the etiology of Mseleni joint disease, it remains unknown. As a result the examination of epigenetic mechanisms and stable isotope analysis of teeth are suggested as a means of providing information on the etiology of the disease. These methods can also be applied to other chondroplasias of unknown etiology.

• 出版日期2010-10