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Protein Deficiency may Cause Mental Retardation

Mental retardation is often caused by a genetic mutation that prevents a protein from functioning properly. However, mutations also alter the function of genes, and the mutated genes act in completely different ways; A recent study published in the international Journal of Human Genetics, Researchers from abroad have identified 15 key genes that cause mental retardation.
The common cause of mental retardation is neonatal mutation, it impairs the function of the gene and prevents it from producing normally functioning proteins, which can lead to disease. In a range of disease-related genes, newborn mutations do not eliminate genes, but affect their function. They are only found in specific parts of the gene.
To elucidate the molecular mechanisms involved, the researchers combined genetic mutations in people with mental retardation with a large database of newborn mutations in multiple patients. They found that newborn mutations often only change the function of a part of the protein. The function of the protein still exists to a large extent, but it is not exactly the same.The mutation is likely to affect the surface portion of the protein, said Gilissen. This interferes with its interactions with other proteins. While mutations that eliminate gene function are often cited as the main cause of mental retardation, mutations that alter gene function are considered an important factor.
Researcher Gillissen said that we have discovered a mechanism that has not received any research attention before. And this mechanism seems to play a key role in the development of most people with mental retardation. Related research may provide new ideas for the development of effective interventions to prevent mental retardation.
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