Inherited genetic mutations can increase disease risk from "summary" of El gen / The Gene: An Intimate History by Siddhartha Mukherjee
Genes, the fundamental units of heredity, are the blueprints that dictate our biological makeup. These genetic instructions are passed down from our parents, shaping everything from our physical traits to our susceptibility to certain diseases. In some cases, however, these genetic blueprints can contain mutations that increase the risk of developing specific health conditions. When these mutated genes are inherited, they can disrupt the normal functioning of cells and lead to an increased likelihood of disease. For example, mutations in the BRCA1 and BRCA2 genes have been linked to a significantly higher risk of developing breast and ovarian cancer. Individuals who inherit these mutated genes are more likely to develop these types of cancer at a younger age compared to those without the mutations. Moreover, genetic mutations can also impact the body's ability to repair damaged DNA, increasing the risk of mutations accumulating over time. This can result in a higher likelihood of developing certain types of cancer or other genetic disorders. For instance, mutations in genes involved in DNA repair mechanisms can lead to an increased risk of skin cancer or other types of malignancies. Inherited genetic mutations can also influence how individuals respond to certain medications or environmental factors. For example, individuals with a specific genetic mutation may metabolize certain drugs differently, affecting their efficacy or potentially leading to adverse reactions. Similarly, individuals with a genetic predisposition to lung disease may be more susceptible to the harmful effects of environmental pollutants like cigarette smoke.- Inherited genetic mutations play a critical role in determining an individual's risk of developing various diseases. Understanding these genetic predispositions can help healthcare providers tailor preventive strategies and treatment plans to mitigate these risks. By unraveling the intricate connections between genes, mutations, and disease, researchers continue to advance our knowledge of genetics and pave the way for personalized medicine tailored to each individual's unique genetic makeup.
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