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Gene For Bones & Connective Tissue Disorders Identified

Researchers have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue.

| May 13, 2013 | In the Lab

AsianScientist (May 13, 2013) – An international team, led by researchers at the RIKEN Center for Integrative Medical Sciences, has identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue.

Spondyloepimetaphyseal dysplasia with joint laxity, type I (SEMD-JL1), is a disorder of the skeleton resulting in short stature and spinal problems starting from birth, and worsens with age. The disease is also known as SEMD Beighton type.

To find the gene responsible for the disorder, and Dr. Shiro Ikegawa and his team examined the entire coding sequence of the genome of seven individuals suffering from SEMD-JL1 using next-generation sequencing technology.

Their results, published in the American Journal of Human Genetics, showed that the study subjects all had mutations that resulted in significant loss of function of the gene B3GALT6, known to be involved in the biosynthesis of an important component of connective tissue.

To their surprise, mutations in B3GALT6 were also found in patients suffering from a disorder of the connective tissue called Ehlers-Danlos syndrome progeroid type.

The researchers show that a deficiency in the B3GALT6 enzyme – known to encode for an enzyme involved in the biosynthesis of the glucosaminoglycan (GAG) linker region – results in a spectrum of disorders affecting various tissues, including the skin, bones, cartilage, tendons, and ligaments. All these disorders were previously thought to belong to different families of diseases – some were thought to be skeletal dysplasia and others connective tissue disorders.

“The GAG linker region is key for GAG biosynthesis and proteoglycan metabolism,” explains Dr. Ikegawa. “Proteoglycans are important because they are a major component of the matrix of connective tissue in animals.”

The article can be found at: Nakajima M et al. (2013) Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders.

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Source: RIKEN.
Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.

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