Alteration of cellular processes
The complex of various biological modules that interact through biophysical and biochemical ways mediates cellular functions. Interdependence between histone-modifying activities, including methylation, phosphorylation, acetylation, and histone-modifying complexes, regulates cellular functions like DNA replication, transcription, and repair (Lopes-Pacheco M., 2020). Understanding the molecular level helps understand how illnesses develop as a result of changes in biological processes. Cystic Fibrosis is a genetic disorder that results from CFTR (cystic fibrosis transmembrane regulator) mutation, a cAMP-regulated channel that results in impairment in chloride transfer across the cell membranes with ensuing chloride and water accumulation in organs and causes viscous secretions to develop that block ducts and cysts.
Role genetics play in disease
Cystic fibrosis is an autosomal recessive exocrine gland disease that affects various organ systems, notably the gastrointestinal and respiratory systems (McCane & Huether, 2019). Cystic fibrosis is an autosomal recessive condition, which implies that a person must be homozygous for the recessive gene to develop the disease. In another way, each individual has two genes that express qualities. If both parents have one gene that causes Cystic Fibrosis, they are both carriers. When they have a child, each of them passes on the gene that causes Cystic Fibrosis to their kid, and the child ends up with two genes that cause CF. When two people who are heterozygous carriers of CF have a child, there is a 25% risk that the kid will have CF. Furthermore, if two individuals with CF have a kid, all of their offspring will inherit the CF gene.
Patient Presenting With Specific Symptoms
The pancreas is an organ in the body that produces enzymes that help the body digest meals and absorb nutrients (John Hopkins Medicine, 2020). In the pancreas, CF creates an enzyme deficit. Indigestion and nutritional malabsorption are caused by a lack of pancreatic enzymes, which explains the child’s stomach pain from crying, failure to flourish, and lack of weight gain despite a healthy appetite. In addition, CF causes the body’s chloride and sodium ion channels to malfunction, resulting in excess sodium and chloride deposits on the skin’s surface, which gives the infant a salty taste when the mother kisses him. CF also generates thicker mucus in the lungs, which may restrict the airway and create chest tightness (National Library of Medicine, 2021).
Physiologic Response to Stimulus
The failure of the CF transmembrane regulator causes mucus blockage in the pancreatic ducts, which blocks pancreatic enzymes and causes viscid mucus in the bronchioles. As shown in the scenario, all of these factors lead to digestion, constipation, chest congestion with nasal airflow blockage, and failure to flourish.
Cells involved in the Process
Epithelial cells in the lungs, digestive tract, pancreas, hepatobiliary system, sweat glands, and reproductive system produce a defective protein called CF transmembrane regulators, which is found in cells that line the lungs, digestive tract, pancreas, hepatobiliary system, sweat glands, and reproductive system (McCance & Huether, 2019).
Another Characteristic Changing Response
CF gene transfer and disease presentation are independent of gender. If both parents have normal genes and are not CF carriers, the CF gene may not have been handed down to the kid; thus, further information and tests are required to discover the source of the child’s symptoms, which might be due to other genetic or environmental factors.
References
John Hopkins Medicine. (2020). The Digestive Process: What is the role of your pancreas indigestion? Data retrieved from https://www.hopkinsmedicine.org/health/conditions-and-diseases/the-digestive-process-what-is-the-role-of-your-pancreas-in-digestion.
Lopes-Pacheco M. (2020). CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine. Frontiers in pharmacology, 10, 1662. https://doi.org/10.3389/fphar.2019.01662
McCance, K. L. & Huether, S. E. (2019). Pathophysiology: The biologic basis for disease in adults and children (8th ed.). St. Louis, MO: Mosby/Elsevier.
National Library Of Medicine. CFTR gene: Cystic fibrosis transmembrane conductance regulator. Data retrieved from https://medlineplus.gov/genetics/gene/cftr/.
