Highly stomach-specific proteins include GKN1, expressed in the mucosa; pepsinogen PGC and the lipase LIPF, expressed in chief cells; and gastric ATPase ATP4A and gastric intrinsic factor GIF, expressed in parietal cells. Development
In early human embryogenesis, the ventral part of the embryo abuts the yolk sac. During the third week of development, as the embryo grows, it begins to surround parts of the sac. The enveloped portions form the basis for the adult gastrointestinal tract. The sac is surrounded by a network of vitelline arteries and veins. Over time, these arteries consolidate into the three main arteries that supply the developing gastrointestinal tract: the celiac artery, superior mesenteric artery, and inferior mesenteric artery. The areas supplied by these arteries are used to define the foregut, midgut, and hindgut. The surrounded sac becomes the primitive gut. Sections of this gut begin to differentiate into the organs of the gastrointestinal tract, and the esophagus, and stomach form from the foregut. Function
Digestion
In the human digestive system, a bolus (a small rounded mass of chewed up food) enters the stomach through the esophagus via the lower esophageal sphincter. The stomach releases proteases (protein-digesting enzymes such as pepsin) and hydrochloric acid, which kills or inhibits bacteria and provides the acidic pH of 2 for the proteases to work. Food is churned by the stomach through muscular contractions of the wall called peristalsis – reducing the volume of the bolus, before looping around the fundus and the body of stomach as the boluses are converted into chyme (partially digested food).
Giant axonal neuropathy is a rare, autosomal recessive neurological disorder that causes disorganization of neurofilaments. Neurofilaments form a structural framework that helps to define the shape and size of neurons and are essential for normal nerve function. A distinguishing feature is its association with kinky, or curly, hair; in such cases it has been called Giant axonal neuropathy with curly hair. Genetics
Giant axonal neuropathy results from mutations in the GAN gene, which codes for the protein gigaxonin. This alters the shape of the protein, changing how it interacts with other proteins when organizing the structure of the neuron.Neurons affected by the altered protein accumulate excess neurofilaments in the axon, the long extension from the nerve cell that transmits its signal to other nerve cells and to muscles. These enlarged or giant axons cannot transmit signals properly, and eventually deteriorate, resulting in the range of neurological anomalies associated with the disorder.This disease is an autosomal recessive disorder, which means the defective gene is located on an autosome, and both parents must have one copy of the defective gene in order to have a child born with the disorder. The parents of a child with an autosomal recessive disorder are carriers, but are usually not affected by the disorder. Diagnosis
Giant axonal neuropathy usually appears in infancy or early childhood, and is progressive. Early signs of the disorder often present in the peripheral nervous system, causing individuals with this disorder to have problems walking. Later, normal sensation, coordination, strength, and reflexes become affected.