Genes And Diseases: Unveiling Five Genetically Influenced Diseases

Genes can influence diseases and it can be transmitted from one generation to another.

Genes can influence our susceptibility to various diseases. Some conditions are genetically inherited, passing from one generation to the next. Genetic disorders result from mutations or changes in genes, the fundamental units of DNA that carry instructions for cell function and individual traits. You inherit half of your genes from each biological parent, and mutations can occur in one or both parents’ genes, increasing the risk of genetic disorders. Genetic disorders can significantly impact an individual’s health and well-being. Understanding the different types of genetic disorders and their causes is essential for diagnosis, treatment, and genetic counseling to help individuals and families manage and cope with these conditions. There are three terms to define that beginning from chromosomal disorders that involve abnormalities in the structures that hold genes and DNA within cells, known as chromosomes. They may result in missing or duplicated chromosome material, leading to a range of conditions. Another one is Multifactorial disorders which are influenced by the combination of gene mutations and external factors such as chemical exposures, dietary choices, certain medications, and tobacco or alcohol use. The interplay of genetics and environmental factors contributes to these disorders. The last one is monogenic which originates from mutations in a single gene. These mutations can lead to various inherited conditions, and the severity of the disorder often depends on the specific gene affected.

Some mutations manifest at birth, while others develop later in life. Here are five genetically influenced diseases:

Cystic Fibrosis

This condition arises from a faulty protein that affects cells, tissues, and glands producing mucus and sweat. It primarily impacts the lungs and digestive system, causing airway blockages, breathing difficulties, and recurring infections. Digestive issues can lead to malnutrition.

Huntington’s Disease

HD is hereditary due to a genetic mutation in a specific gene. Children of affected parents have a 50% chance of inheriting the mutation. It results in cognitive and psychiatric disorders. Even inheriting one copy of the gene can lead to symptoms.

Sickle Cell Anemia

This inherited blood disorder causes recurring pain, chronic anemia, and infections. Red blood cells become sickle-shaped, impeding oxygen transport. Patients must avoid situations that reduce oxygen levels, like high altitudes or strenuous exercise.

Haemophilia

Hemophilia A and B are severe bleeding disorders due to protein deficiencies (factor VIII and factor IX). Prolonged bleeding episodes occur, irrespective of trauma, with severity depending on factor activity levels. Queen Victoria passed this gene to her descendants.

Hereditary Cancers

Mutations like BRCA1 and BRCA2 substantially raise the risk of breast, ovarian, and other cancers. Those with these mutations face a higher lifetime cancer risk and often develop cancer at a younger age.

Prevention And Management

-Genetic Counseling: Discuss your family history with a healthcare provider to identify potential issues in offspring.

-Genetic Testing: Genetic studies can detect genetic mutations and assess the risk of inheriting diseases. These tests enable proactive measures.

-Regular Check-Ups: Those with a family history of these diseases should undergo regular medical check-ups to detect early changes and prevent complications, especially in cases like breast cancer.

Understanding the genetic factors behind these diseases is crucial for early detection and intervention. Genetic counseling and testing empower individuals to make informed decisions about their healthcare and the health of their offspring, potentially reducing the impact of these inherited conditions.