University:
Western Sydney University
Course:
MEDI 2003 | Clinical Sciences 2
Academic year:

2024
Views:

152

Pages:

3
Author:

Mariam A. A.

Diseases Caused by Mutations in Genes Encoding Receptor Proteins or Channels Genetic mutations can lead to a wide range of diseases, particularly when they affect genes encoding receptor proteins or ion channels. These mutations disrupt the normal function of these proteins, which are crucial for cellular communication, signal transduction, and maintaining homeostasis in the body. Here, we explore some notable diseases caused by such mutations and their implications. 1. Cystic Fibrosis (CF): • • • • Gene Affected: CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) Function: CFTR is an ion channel responsible for chloride transport across cell membranes, crucial for maintaining proper hydration of epithelial surfaces. Mutation Impact: Mutations in CFTR disrupt chloride transport, leading to thick and sticky mucus production in various organs, particularly affecting the lungs and digestive system. Symptoms: Chronic respiratory infections, pancreatic insufficiency, and poor growth are characteristic features. 2. Long QT Syndrome: • • • • Genes Affected: Various genes encoding cardiac ion channels (e.g., KCNQ1, KCNH2, SCN5A) Function: These genes encode ion channels involved in regulating the cardiac action potential duration. Mutation Impact: Mutations lead to prolonged QT intervals on electrocardiograms, increasing the risk of life-threatening arrhythmias like torsades de pointes and sudden cardiac arrest. Symptoms: Fainting, seizures, and sudden death, often triggered by physical or emotional stress. 3. Hypertrophic Cardiomyopathy (HCM): • • • • Gene Affected: MYH7, MYBPC3, or others encoding cardiac sarcomere proteins. Function: These genes regulate the structure and function of cardiac muscle fibers. Mutation Impact: Mutations disrupt the sarcomere function, leading to abnormal thickening of the heart muscle (hypertrophy). Symptoms: Chest pain, shortness of breath, arrhythmias, and an increased risk of sudden cardiac death, especially during exercise. 4. Familial Hypercholesterolemia (FH): • • • • Gene Affected: LDLR (Low-Density Lipoprotein Receptor) or others involved in lipid metabolism. Function: LDLR regulates cholesterol uptake from the bloodstream into cells. Mutation Impact: Mutations reduce or eliminate the function of LDLR, resulting in high levels of circulating low-density lipoprotein (LDL) cholesterol. Symptoms: Premature atherosclerosis, leading to coronary artery disease, heart attacks, and strokes at a young age if left untreated. 5. Epidermolysis Bullosa (EB): • • • • Genes Affected: COL7A1 (Collagen Type VII) and others involved in skin integrity. Function: These genes encode proteins crucial for maintaining skin structure and integrity. Mutation Impact: Mutations lead to fragile skin that blisters and tears easily in response to minor trauma or friction. Symptoms: Painful blisters and wounds, scarring, and potential complications like infection and malnutrition due to difficulty in eating.