Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the journal Nature. Unstable proteins are more likely to misfold and degrade, causing them to stop working or accumulate in harmful amounts inside cells.
Center for Genomic RegulationJan 9 2025
The study looked at some disease-causing mutations more closely. For example, beta-gamma crystallins are a family of proteins essential for maintaining lens clarity in the human eye. They found that 72% of mutations linked to cataract formation destabilise crystallin proteins, making the proteins more likely to clump together and form opaque regions in the lens.
Rett Syndrome is a neurological disorder which causes severe cognitive and physical impairments. It is caused by mutations in the MECP2 gene, which produces a protein responsible for regulating gene expression in the brain. The study found that many mutations in MECP2 do not destabilize the protein but are instead found in regions which affect how MECP2 binds to DNA to regulate other genes. This loss of function could be disrupting brain development and function.
Related StoriesMutations causing recessive disorders were more likely to destabilize proteins, while mutations causing dominant disorders often affected other aspects of protein function, such as interactions with DNA or other proteins, rather than just stability. Protein domains are specific regions which can fold into a stable structure and perform a job independently of the rest of the protein. Human Domainome 1 was created by systematically changing each amino acid in these domains to every other possible amino acid, creating a catalogue of all possible mutations.
Though Human Domainome 1 is around 4.5 times bigger than previous libraries of protein variants, it still only covers 2.5% of known human proteins. As researchers increase the size of the catalogue, the exact contribution of disease-causing mutations to protein instability will become increasingly clear.
Brain Cataract Cell CLARITY DNA Eye Gene Genome Genomic Medicine Muscle Mutation Protein Protein Stability Research Syndrome Yeast
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