How a Gene Mutation in Matrix Gla Protein Causes Spondyloepiphyseal Dysplasia: A Study by McGill Researchers

A team of researchers from McGill University in Canada has recently made a groundbreaking discovery related to a rare skeletal disorder known as spondyloepiphyseal dysplasia (SED). This disorder affects the structure and development of the bones and joints, causing problems such as short stature, limb deformities, joint pain, and heart defects.

It has been identified that the gene responsible for SED is known as matrix Gla protein (MGP), which is a protein that helps regulate calcium levels in the body. MGP is produced by certain cells in the skeleton, such as bone cells and cartilage cells. MGP can bind to calcium ions and prevent them from depositing in hard tissues, such as arteries and bones. This helps to maintain the health and function of these tissues.

How a Gene Mutation in Matrix Gla Protein Causes Spondyloepiphyseal Dysplasia: A Study by McGill Researchers
Image credit: McGill University: Photo from research paper

In the course of their study, researchers examined four individuals from two families and pinpointed an altered MGP gene variant leading to abnormal bone development. Unlike normal MGP, this variant caused an abnormal protein, which, instead of leaving cells as usual, induced stress within the endoplasmic reticulum. This stress ultimately resulted in cartilage cell death and abnormal bone growth. Significantly, experiments on mice mirrored these bone problems, validating the findings.

The study also sheds light on the broader context of genetic disorders, specifically mentioning that variants in the MGP gene can lead to Keutel syndrome. Moreover, the researchers underscore the broader implications for public health, noting that more individuals with related conditions may seek medical consultation, contributing to ongoing research and clinical management.

SED is one of the many types of osteochondrodysplasia, which is a general term for a group of disorders that affect the development and growth of bones and cartilage. These disorders can cause various skeletal abnormalities, such as short stature, limb deformities, joint problems, and facial features. Osteochondro dysplasia can be inherited or acquired, and it can affect people of any age.

Some common types of osteochondrodysplasia are achondroplasia, pseudoachondroplasia, Legg-Calvé-Perthes disease, Crouzon syndrome, Marfan syndrome, Ehlers-Danlos syndrome, and mucopolysaccharidosis IV. These disorders have different genetic causes, clinical features, and prognoses.

The publication of this study has already garnered attention within the medical community, with clinicians identifying patients exhibiting the same MGP gene mutation reaching out to the research team. This collaborative effort, titled ‘Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia,’ involved researchers Monzur Murshed, Ophelie Gourgas, and their colleagues.

The researchers hope that their findings will help other people with similar skeletal problems to understand their condition better and seek appropriate medical care.

Download: Original Publication

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