Mutation of CFTR also has implications for the gastrointestinal and endocrine sy
ID: 73209 • Letter: M
Question
Mutation of CFTR also has implications for the gastrointestinal and endocrine systems. Pancreatic Function can be impaired in patients, leading to various pathologies. A thickening of pancreatic secretions is associated with poor growth and development while structural damage to the pancreas is related to development of cystic fibrosis-related diabetes (CFRD).
1.Apply your knowledge of the gastrointestinal system to explain the connection between decreased, thickened secretions and poor growth & development.
2.Apply your knowledge of the endocrine functions of the pancreas to explain why CFRD develops and possible consequences of developing CFRD.
Explanation / Answer
Normal function of CFTR gene:
Gastrointestinal system:
The digestive system is made up of the gastrointestinal (GI) tract also called the digestive tract and the liver, pancreas, and gallbladder. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The hollow organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestine. which includes the rectum and anus.
Food enters the mouth and passes to the anus through the hollow organs of the GI tract. The liver, pancreas, and gallbladder are the solid organs of the digestive system. The digestive system helps the body digest food.
Mutation of CFTR also has implications for the gastrointestinal system:
Structure and Function of the Pancreas:
The pancreas lies inferior to the stomach, in a bend of the duodenum. It is both an endocrine and an exocrine gland. The exocrine functions are concerned with digestion. The endocrine function consists primarily of the secretion of the two major hormones, insulin and glucagon. Four cell types have been identified in the islets, each producing a different hormone with specific actions:
* A cells produce glucagon;
* B cells produce insulin;
* D cells produce somatostatin; and
* F or D1 cells produce pancreatic polypeptide.
These hormones are all polypeptides. Insulin is secreted only by the B cells whereas the other hormones are also secreted by the gastrointestinal mucosa and somatostatin is also found in the brain.
Both insulin and glucagon are important in the regulation of carbohydrate, protein and lipid metabolism:
Insulin is an anabolic hormone, that is, it increases the storage of glucose, fatty acids and amino acids in cells and tissues.
Glucagon is a catabolic hormone, that is, it mobilizes glucose, fatty acids and amino acids from stores into the blood.
Somatostatin may regulate, locally, the secretion of the other pancreatic hormones; in brain (hypothalamus) and spinal cord it may act as a neurohormone and neurotransmitter. The function and origin of pancreatic polypeptide are still uncertain although the hormone may influence gastrointestinal function and promote intra-islet homeostasis.
Mutation of CFTR also has implications for the Endocrine system:
The pancreas contains the islets of Langerhans, which are responsible for making insulin, a hormone that helps regulate blood glucose. Damage of the pancreas can lead to loss of the islet cells, leading to a type of diabetes that is unique to those with the disease. This cystic fibrosis-related diabetes (CFRD) shares characteristics that can be found in type 1 and type 2 diabetics, and is one of the principal nonpulmonary complications of CF. Vitamin D is involved in calcium and phosphate regulation. Poor uptake of vitamin D from the diet because of malabsorption can lead to the bone disease osteoporosis in which weakened bones are more susceptible to fractures. In addition, people with CF often develop clubbing of their fingers and toes due to the effects of chronic illness and low oxygen in their tissues.
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