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April 11, 2001

Genetic Risk Factors for Lumbar Disk Disease

Author Affiliations

Author Affiliation: Section on Connective Tissue Disorders, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md.

JAMA. 2001;285(14):1886-1888. doi:10.1001/jama.285.14.1886

Musculoskeletal disorders such as lumbar disk disease are among the most common conditions for which patients seek medical care. Although clinical studies have provided insights into disease prevalence and clinical management, recent research advances have yielded understanding about the molecular mechanisms that may be involved and the genetic mutations that may contribute to a variety of musculoskeletal and connective tissue disorders.

Members of the collagen protein family are the most abundant structural components of the extracellular matrix of connective tissues.1 In bone, cartilage, tendon, and skin the collagens are organized into ropelike fibrils, called heterotypic because they are composed of multiple collagen types. Collagen types differ in length and chain composition, but all have in common a triple-helical structure and a primary sequence composed of uninterrupted repeats of the sequence Gly-X-Y, where gly is glycine, X is often proline, and Y is often hydroxyproline. Type II collagen is the most abundant collagen of cartilagenous tissues and is referred to as the major collagen. It forms heterotypic fibrils with the successively less abundant (hence "minor") collagens, types IX and XI. The collagenous fibrils provide the strength necessary for tissues to resist tensile forces. In cartilage, where resistance to compressive forces is also a major issue, the tissue also has a significant proportion of proteoglycan.

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