protein

A study has shown that a long-overlooked form of neuron-to-neuron communication called miniature neurotransmission plays an essential role in the development of synapses, the regions where nerve impulses are transmitted and received. The findings, made in fruit flies, raise the possibility that abnormalities in miniature neurotransmission may contribute to neurodevelopmental diseases. The findings, by researchers at Columbia University Medical Center (CUMC), were published today in the online edition of the journal Neuron.

The researchers used genetically engineered mice to show that myoctye-enhancer factor 2D (MEF2D), a transcription factor that turns on specific genes involved in cell survival, is activated after binding to a protein known as A-T mutated (ATM). When the ATM gene that codes for the ATM protein is mutated, thus causing A-T, ATM-MEF2D-survival signals in response to DNA damage are ineffective and may contribute to neurodegeneration.

Their recent findings shed new light on the mechanical properties of a critical brain protein and its role in the elasticity of axons, the long, tendril-like part of brain cells. This protein, known as tau, helps explain the apparent contradiction this elasticity presents. If axons are so stretchy, why do they break under the strain of a traumatic brain injury?

Scientists at The Scripps Research Institute (TSRI) have invented small-molecule folding probes that enable them to quantify functional, normally folded and disease-associated misfolded conformations (shapes) of a protein-of-interest in cells under different conditions. This new probe technology should lead to a better understanding of how to fold misfolding-prone proteins in cells

This research could also potentially impact how science and healthcare think about and treat brain injuries, Kuo said. Currently, damaged neurons that have lost their dendrites are unable to properly communicate with their neighbors, rendering them nonfunctional. The problem could be reversed, he said, by helping neurons modify their original developmental program and regrow new dendrites.

Humans with deficiencies in NMD have intellectual disability and often also have schizophrenia and autism. Therapies to enhance NMD in affected individuals could be useful in restoring the correct balance of stem cells and differentiated neurons and thereby help restore normal brain function.

Mutations in the genes encoding the three proteins can lead to some neurological and mental disorders in humans. In many other diseases, the primary defect initiated by something else can alter the function of these three proteins – and particularly sodium channel transport and function – and ultimately disrupt the nerve impulse. If the sodium channel can’t conduct the nerve impulse anymore, that gives rise to symptoms of neurological disorders.

Researchers at Penn State have developed an innovative technology to regenerate functional neurons after brain injury and also in model systems used for research on Alzheimer’s disease. The scientists have used supporting cells of the central nervous system, glial cells, to regenerate healthy, functional neurons, which are critical for transmitting signals in the brain.

If future research were to confirm a connection between IGF and autism, Dr. Steinman recommends a new phase of research focused upon the detection of possibly depressed IGF levels in amniotic fluid during the second trimester of pregnancy. This might be followed by supplementation of the growth factor before symptoms of autism develop.

SIRP alpha, a protein found on the surface of various cells throughout the body, appears to play a key role in the process of cementing the most active synaptic connections between brain cells. The research, done in mouse brains, was funded by the National Institutes of Health and several foundations.The findings boost understanding of basic brain development – and may aid research on conditions like autism, schizophrenia, epilepsy and intellectual disability, all of which have some basis in abnormal synapse function.