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CMG2 mutation can cause Hyaline Fibromatosis Syndrome

Study conducted recently, have shown that Capillary Morphogenesis Gene 2 or CMG2 interacts with specific components of the cell’s cytoskeleton. To know more about it, researchers carefully dissected the networks connected to CMG2. Researchers found that it binds Talin, a protein that helps to connect the critical components of the cell’s skeleton, integrin, and actin. Talin acts as the door through which CMG2 can interact with the cytoskeleton – but only when the latter is free from any ligand.

In a previous study, EPFL scientists had shown that the CMG2 protein interacts with collagen VI. It is also believed to regulate its concentration inside the cell. In HFS, a mutation of the CMG2 gene forestalls its protein to function, prompting the accumulation of collagen VI in organs.

HFS is caused by mutation of a gene called Capillary Morphogenesis Gene 2 or CMG2, abbreviated as ANTXR2 because it makes cells sensitive to anthrax infections.

The process by which CMG2 releases talin “picks up” a cytoskeleton regulator called RhoA, as well as its effector proteins. The scientists identify the specific parts of CMG2 that are responsible for these interactions.

“This explains why HFS mutations in the cytoskeleton binding domain lead to dysregulation of extracellular matrix homeostasis.”

“Our findings reveal a new behavior for an extracellular matrix receptor.” Gisou van der Goot 

The study was performed in collaboration with the University of Geneva, EPFL Institute of Bioengineering, and the Centre Hospitalier Universitaire Vaudois/University of Lausanne.

#HFS #HyalineFibromatosisSyndrome #treatment #update

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