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Gene Responsible For Muscle Repair Discovered By Scientists

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Gene Responsible For Muscle Repair Discovered By Scientists

A team of scientists from London and Berlin, using DNA sequencing techniques discovered a new gene that is aiding the differentiation process of stem cells into muscle cells. The study was published this week in the journal Nature Genetics.

The scientists based their study on several children coming from families with a history of Duchenne muscular dystrophy (a genetic skeletal muscle fiber disorder characterized by degeneration that causes progressive atrophy of most muscle groups, resulting in installation of variable motor disability , depending on the type and evolutionary stage).

With the aid of state-of-the-art, DNA sequencing technology, researches discovered a malfunctioning gene called MEGF10 for a family living in the United Kingdom. After further research, the same defect was discovered in other families from Asia and Europe.

DNA

DNA

These result could be the basis of future genetic screening programs that could early diagnose this terrible condition.

Muscle stem cells also called satellite cells are dependent upon the action of MEGF10 gene, and are normally in close contact with the surface of muscle fibers, where they remain dormant. In case of injury , these stem cells become active and start to proliferate and merge themselves with the muscle fibers. The MEGF10 gene plays a key role in this binding process as they provide the ‘sticky’ substrate used by the stem cells to fuse with muscle fibers.

The muscle mass represents about 40 per cent of the normal person body weight therefore it needs to be constantly maintained. MEFF10 plays a key role in the process of muscular regeneration and abnormalities lead to progressive muscle weakness not only of all muscular groups but also the ones that are part of different internal organs.

The new DNA sequencing technology relevance is more and more emphasized by scientists as it allows them to sequence impressive numbers of genes with lower costs at the same time. This means that more families suffering from rare genetic disorders, may find more answers in the near future and escape from an ‘idiopathic’ diagnosis. When the exact cause and mechanism of a disease is known there is only one step left to a new or better treatment option.