Mechanism That Triggers Onset Of Genetic Diseases Identified

Universitat Autonoma de Barcelona (UAB) scientists have identified a mechanism that could trigger onset of various genetic diseases.

They have found a process by which proteins with a tendency to cause conformational diseases such as amyotrophic lateral sclerosis, familial amyloidotic polyneuropathy, familial amyloidotic cardiomyopathy, etc. finally end up causing them.

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The answer can be found in the separation of the proteins.

According to the researchers Salvador Ventura and Virgmnia Castillo, every day cells produce thousands of new proteins, which renew themselves every second and which, by obeying the orders prescribed in our genetic code, work towards the proper functioning of our body.

However, these proteins occasionally suffer genetic mutations, which can cause changes in their composition, thus preventing them from carrying out their functions and the activities they are assigned.

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In many cases this gives way to the formation of toxic macromolecular aggregates - amyloid fibrils - which block our body's protein quality control system and finally provoke cell death.

Protein aggregation and the misfolding of proteins can be linked to the origin of many conformational diseases, which can be either genetic or spontaneous.

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As possible strategies to prevent the dissociation of proteins, the authors propose introducing genetic mutations into the proteins to strengthen their association and developing specific molecules to block the risk regions of already dissociated proteins.

The study appears in journal PLoS Computational Biology.

Source-ANI
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