SNP Shot: Genomic Insights

Cystic fibrosis (CF) is a genetic condition where the body produces unusually thick and sticky mucus, leading to organ damage. Common symptoms include progressive respiratory issues and persistent digestive problems. The specific symptoms and their intensity vary from person to person.

Normally, mucus is a slippery fluid that protects and lubricates the linings of various body systems, including the airways and digestive tract. In individuals with CF, the abnormal mucus clogs airways, causing breathing difficulties and increasing the risk of lung infections. These infections result in chronic cough, wheezing, and inflammation. Over time, the accumulation of mucus and recurrent infections lead to lasting lung damage, including fibrosis (scarring) and the development of cysts.

Digestive issues are also prevalent in CF patients. Some newborns may experience meconium ileus, an intestinal blockage soon after birth. Other digestive complications arise from thick mucus obstructing the pancreas. The pancreas produces insulin, which regulates blood sugar, and digestive enzymes. In CF, mucus often damages the pancreas, hindering its ability to produce these vital substances. This can lead to diarrhea, malnutrition, poor growth, and weight loss. Later in life, insulin deficiency can cause cystic fibrosis-related diabetes mellitus (CFRDM).

Historically, CF was considered a childhood disease with poor prognosis. However, advancements in treatment and management strategies have significantly improved the lifespan of individuals with CF, allowing many to live well into adulthood. Adults with CF may still face respiratory, digestive, and reproductive health challenges. A majority of males with CF have congenital bilateral absence of the vas deferens (CBAVD), a condition where the sperm-carrying tubes (vas deferens) are blocked by mucus and fail to develop correctly, leading to infertility unless treated. Women with CF may encounter pregnancy-related complications.

Inheritance:

CF follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, carrying only one copy of the mutated gene each, are typically asymptomatic carriers of the condition.