This mutation results in intracellular retention of mutant proteins, possibly causing impaired function of a synaptic cell adhesion molecule, Other mutations of NLGN 4 found in relation to autism spectrum disorders include a 2-bp deletion, 1253delAG, in the NLGN4 gene, which causes a frameshift and a premature stop codon.
32.
Examples of pathological physiology include : unusual excitatory connections within the neuronal network of the brain; abnormal neuron structure leading to altered current flow; decreased inhibitory neurotransmitter synthesis; ineffective receptors for inhibitory neurotransmitters; insufficient breakdown of excitatory neurotransmitters leading to excess; immature synapse development; and impaired function of ionic channels.
33.
Such a dominant negative impaired function of PKM2 in tumor development is not known; also evidencing for the first time the possible predisposition of BS patients with impaired PKM2 activity to cancer, and the importance of studying genetic variations in PKM2 in future to understand their relevance in cancer in general.
34.
"In the last five years, we've seen advances in many types of devices that are implanted into the body, or are external to it, that are taking over for impaired functions, " said Dr . Susan Alpert, director of the Office of Device Evaluation at the Food and Drug Administration, which regulates such products.
35.
This prolonged activity may have to do with impaired function of the basal ganglia, which is thought to send a termination signal to the SMA . While changes in preparatory movement activity are present in PD patients, executed-movement processes in the brain seem to be unaffected, suggesting that premovement activity abnormality may underlie the difficulty in movement prevalent in Parkinson's disease.
