A Look at Diseases Caused by Inherited Genetic Mutations

A Look at Diseases Caused by Inherited Genetic Mutations

Inherited genetic mutations are a common occurrence in humans. They can cause diseases such as cancer, diabetes, and many other health problems. However, it’s not just the sick who are at risk for inheriting these mutations. Anyone can be at risk if they have a mutated gene. You don’t even have to be born with a mutated gene to start getting sick from it. Your family history may play a role too. If you are genetically susceptible to a certain disease, you might be more likely to get it if you live in a place where the climate is conducive to the spread of that disease. Below are some examples of inherited genetic diseases that people around the world suffer from.

Cystic Fibrosis (CF)

Cystic fibrosis (CF), also known as “The Sweaty Disease,” is an inherited condition caused by mutations of the CFTR gene. This causes your lungs and pancreas to become blocked, leading to lung infections and cystic fibrosis-related diabetes. Although there is no cure for this disease, many people lead relatively normal lives today, thanks mostly to improved medical care. The median life expectancy for someone with cystic fibrosis is 40 years old.

Sickle Cell Anemia (SCD)

Sickle cell anemia (also called sickle cell disease) is a type of anemia characterized by red blood cells that look like little crescent moons. People with sickle cell anemia usually cannot make enough healthy hemoglobin (the protein found in red blood cells). They must rely on their mother’s antibodies to keep them healthy. There is a chronic illness associated with sickle cell disease called vaso-occlusion, which makes certain organs, including the liver and spleen, inflamed and damaged. This results in painful episodes with high fever, chills, coughing up blood or mucus, severe abdominal pain, weakness, dizziness, nausea/vomiting, and shortness of breath. Death can occur when a person suffers one of those symptoms while being hospitalized for another reason.

Huntington’s Disease (HD)

Huntington’s disease (HD) is an autosomal dominant neurological disorder that was first described by George Huntington in 1872. Symptoms include tremors, chorea, psychiatric abnormalities, cognitive dysfunction, dementia, and eventually death. There is currently no treatment available for this disease, but scientists hope to find one soon. HD occurs most often due to a mutation of the HTT gene, but it can also happen spontaneously.

Tay-Sachs Disease (TSD)

Tay-Sachs disease (TSD) is a rare lysosomal storage disorder resulting from a deficiency of beta-hexosaminidase A. This leads to the accumulation of GM2 ganglioside within neurons, oligodendrocytes, and Schwann cells. It affects the central nervous system and skeletal muscles, causing progressive deterioration.

Charcot-Marie-Tooth Disease

Charcot-Marie Tooth disease (CMTHD) is a group of disorders affecting the peripheral nerves. CMT is either hereditary or sporadic; both conditions result in the degeneration of nerve fibers. Most cases are inherited as autosomal dominant traits. One form of CMT is Charcot-Marie-Tooth muscular dystrophy (CMTMD); the main symptom is muscle wasting. Patients with CMTMD show signs of muscle weakness and atrophy in the lower limbs. Other forms of CMT exist, and the severity ranges from mild to very severe.

Duchene Muscular Dystrophy (DMDC)

Duchenne muscular dystrophy (DMDC) is a neuromuscular genetic disorder that primarily affects the skeletal musculature. DMDC has three distinct types: classical, Becker’s, and myotubular. All three types have similar pathophysiology, although some clinical features are unique to each type.