<span>Lafora disease is the most severe teenage-onset progressive epilepsy, a unique form of glycogenosis with perikaryal accumulation of an abnormal form of glycogen, and a neurodegenerative disorder exhibiting an unusual generalized organellar disintegration. The disease is caused by mutations of the EPM2A gene, which encodes two isoforms of the laforin protein tyrosine phosphatase, having alternate carboxyl termini, one localized in the cytoplasm (endoplasmic reticulum) and the other in the nucleus. To date, all documented disease mutations, including the knockout mouse model deletion, have been in the segment of the protein common to both isoforms. It is therefore not known whether dysfunction of the cytoplasmic, nuclear, or both isoforms leads to the disease. In the present work, we identify six novel mutations, one of which, c.950insT (Q319fs), is the first mutation specific to the cytoplasmic laforin isoform, implicating this isoform in disease pathogenesis. To confirm this mutation's deleterious effect on laforin, we studied the resultant protein's subcellular localization and function and show a drastic reduction in its phosphatase activity, despite maintenance of its location at the endoplasmic reticulum.
I got my information from </span>https://www.ncbi.nlm.nih.gov/pubmed/14722920
Glutamine and glutamate are the primary nitrogen donors for biosynthetic reactions in the cell. Glutamine is an α-amino acid that is used in the biosynthesis of proteins. Its side chain is similar to that of glutamic acid, except the carboxylic acid group is replaced by an amide. It is classified as a charge-neutral, polar amino acid. It is non-essential and conditionally essential in humans, meaning the body can usually synthesize sufficient amounts of it, but in some instances of stress, the body's demand for glutamine increases, and glutamine must be obtained from the diet. Glutamate is generally acknowledged to be the most important transmitter for normal brain function. Nearly all excitatory neurons in the central nervous system<span> are glutamatergic, and it is estimated that over half of all brain synapses release this agent. Glutamate plays an especially important role in clinical neurology because elevated concentrations of extracellular glutamate, released as a result of neural injury, are toxic to neurons</span>
Answer:
When you sit on a plane for 6 hours without moving, blood accumulates in your veins, and the moment you get up, gravitational forces affect venous return, cardiac output, blood pressure, and venous pressure. That way, when you're sitting on a plane, the gravitational force is the same at the upper and lower extremities, such as the chest, abdomen, and legs, causing venous blood pressure and volume to be evenly distributed throughout the body. However, when one gets up, one becomes dizzy because of abnormal regulation of blood pressure. This is because gravity causes blood to accumulate in the lower extremities (veins of the legs and trunk). This lowers the blood pressure and the blood that the heart pumps. By causing blood to accumulate in the lower extremities, and as venous compliance increases, the veins expand with blood that causes the volume of blood to shift in the veins. This increases the volume and venous pressure in the lower extremities when standing. And the volume of thoracic venous blood is less and less central venous pressure. This leads to a decline in stroke volume. Cardiac output and mean arterial pressure also decrease as left ventricular stroke volume decreases, reducing pulmonary venous return. Decreased standing blood pressure, referred to as orthostatic or postural hypotension. Thus, lowering blood pressure decreases cerebral blood flow, which means less range of blood in the brain causing dizziness.
Explanation:
Answer:
The correct answer is chunking.
Explanation:
Chunking is a term signifying the procedure of taking single pieces of information or chunks and aligning them into bigger units. By aligning each piece into a large whole, one can better the amount of data one can remember.
Generally, the most common illustration of chunking takes place in phone numbers. By distinguishing dissimilar single elements into bigger blocks, information becomes easier to recall and retain.
