Diseases caused by single gene mutations, also known as single-gene disorders, arise when a mutation affects one gene. While numerous mutations within that single gene can cause the same disease (potentially with varying severity), the core issue stems from that one gene's altered function.
Here are some common examples of diseases caused by single gene mutations:
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Cystic Fibrosis: This disease affects the lungs, pancreas, and other organs. It is caused by mutations in the CFTR gene, which regulates the movement of salt and water in and out of cells.
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Hemochromatosis: This disorder causes the body to absorb too much iron from food, leading to iron overload and potential organ damage. It is most commonly caused by mutations in the HFE gene.
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Tay-Sachs Disease: This is a rare, progressive neurodegenerative disorder that primarily affects infants and young children. It results from mutations in the HEXA gene, which leads to a buildup of toxic substances in the brain and spinal cord.
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Sickle Cell Anemia: This is a blood disorder that causes red blood cells to become misshapen and break down. It is caused by a mutation in the HBB gene, which provides instructions for making a component of hemoglobin.
It is important to note that the severity and phenotype (observable characteristics) of these diseases can vary depending on the specific mutation within the gene and other genetic and environmental factors. Different mutations in the same gene can lead to different clinical presentations.
