The Truth about Loss-of-Function Mutations in Human Genomes
Loss-of-function mutations in human genomes refer to any mutation that decreases or eliminates the gene’s normal activity. These mutations can be caused by a variety of factors, including environmental influences or genetic changes. While loss-of-function mutations can cause a variety of diseases, they can also be beneficial in some cases. It is important to understand the potential consequences of loss-of-function mutations in order to make informed decisions about our health. One of the most well-known types of loss-of-function mutations is the presence of mutations in the BRCA1 or BRCA2 genes. These mutations are associated with an increased risk of breast and ovarian cancers (Brodie et al., 2019). Another example of a loss-of-function mutation is a mutation in the CFTR gene, which is associated with cystic fibrosis (Striano et al., 2020). Loss-of-function mutations can also be beneficial. For example, a mutation in the CCR5 gene has been associated with resistance to HIV-1 infection (Hoffmann et al., 2016). In addition, some studies have suggested that loss-of-function mutations in the APOE gene can reduce the risk of Alzheimer’s disease (Bertram et al., 2021). Cont….
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