Opinion - (2023) Volume 24, Issue 5
Received: 26-Sep-2023 Published: 23-Oct-2023, DOI: 10.35841/1590-8577- 24.5.827
Inherited diseases, also known as genetic disorders, are conditions that result from mutations or alterations in an individual's DNA. These mutations can be present in a person's germline cells (egg and sperm), making them heritable and transmissible from one generation to the next. They can be caused by mutations in single genes (monogenic disorders) or by complex interactions between multiple genes and environmental factors (multifactorial disorders) [1].
Monogenic disorders are caused by mutations in a single gene. These disorders follow a Mendelian pattern of inheritance and often exhibit a clear-cut pattern of transmission through families. Some common examples include: Cystic Fibrosis: This genetic disorder is caused by mutations in the CFTR gene, leading to the production of thick and sticky mucus in the lungs and digestive tract. Cystic fibrosis is inherited in an autosomal recessive manner, meaning both parents must carry a mutated gene for a child to be affected [2].
Hemophilia: Hemophilia A and B are caused by mutations in genes responsible for blood clotting factors. Affected individuals experience difficulty in blood clotting, leading to prolonged bleeding. Sickle Cell Anemia: This condition results from mutations in the HBB gene, causing red blood cells to become misshapen and less effective in delivering oxygen. It is particularly prevalent in certain populations, such as those of African and Mediterranean descent [3].
Multifactorial disorders, on the other hand, result from a combination of genetic factors and environmental influences. These conditions tend to be more complex and may not follow a clear Mendelian pattern of inheritance. Examples include: Heart Disease: Cardiovascular diseases often have a strong genetic component, but lifestyle factors such as diet, exercise, and smoking also play a significant role. Variations in multiple genes contribute to an individual's susceptibility to heart disease [4].
Cancer: While cancer can be caused by gene mutations, it is usually not directly inherited. Instead, individuals may inherit an increased risk of developing cancer due to genetic predispositions. For example, BRCA1 and BRCA2 mutations are associated with a higher risk of breast and ovarian cancer. Type 2 Diabetes: Genetic factors can influence the risk of developing type 2 diabetes, but lifestyle factors, such as diet and physical activity, also play a substantial role. Various genes are associated with insulin resistance and glucose metabolism [5].
Genetics plays an indispensable role in understanding the causes, diagnosis, and management of inherited diseases and disorders. Whether they are monogenic conditions with a clear genetic basis or multifactorial diseases influenced by a combination of genetic and environmental factors, the knowledge gained through genetic research and testing is transforming our ability to prevent, treat, and mitigate the impact of these health conditions. Moreover, it underscores the importance of ethical considerations and genetic counseling in delivering responsible and patient-centered care in the realm of genetics and medicine.
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