The researchers plan to investigate what percentage of individuals individuals with intellectual disability and autism may carry CC2D1A mutations and to determine whether other
genes affect neurons in a similar fashion.
Not exact matches
When looking into mechanisms that might
affect the levels of SMN protein in
neurons, the researchers scanned a genomic database called the UCSC Genome Browser and identified two genetic sequences that matched the opposite DNA strand of the SMN
gene.
In individuals
affected by SMA, the survival motor
neuron - 1 (SMN1)
gene is mutated and lacks the ability to process a key protein that helps
neurons function.
The goal of early SMA drug discovery programs has been to identify small molecules that induce the SMN
gene to produce sufficient levels of protein to improve motor
neuron functioning in
affected patients.
Other directions for future research, Liu said, include looking at the role of CLOCK in more forms of the disease, learning more about exactly how CLOCK
affects neural circuits to disrupt adequate inhibition of excitatory
neurons, and examining whether any of the
genes that CLOCK regulates are especially important in the disorder.
In individuals
affected by SMA, the spinal motor
neuron - 1 (SMN1)
gene is mutated and lacks the ability to process a key protein that helps muscle
neurons function.
To understand why only some motor
neurons are vulnerable to ALS, the researchers used DNA microarray profiling to compare the activity of tens of thousands of
genes in
neurons that resist ALS (oculomotor
neurons / eye movement and Onuf's nuclei / continence) with
neurons affected by ALS (lumbar 5 spinal
neurons / leg movement).
So even though the
genes that cause ALS and SMA are different, they might share a common pathway that
affects motor
neuron structure and function.»
Howard Hughes Medical Institute (HHMI) scientists have profiled key features of the genetic material inside three types of brain cells and found vast differences in the patterns of chemical modifications that
affect how the
genes in each type of
neuron are regulated.
«We hope that in the future, by fully understanding how this
gene affects signaling in the brain, we may be able to identify drugs to restore the normal signaling balance in
neurons and improve cognitive and social function in patients,» says lead author Dr. M. Chiara Manzini.
Alsin's function isn't clear, but because the
affected family members have two defective copies of the
gene, called ALS2, the protein could play a role in motor
neuron function.
To see how courting is
affected when
neurons are hyperactivated, they used flies with a version of a
gene that was stuck in the «on» state in clumps of nerve cells.
A region of the
gene that produces the PACAP38 protein has held nearly constant, even in humans, presumably because the protein plays diverse roles in
neuron communication and is essential for normal development of the cerebellum,
affecting brain cell migration, for example.
Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS
Neurons Reveal that Synaptic Vesicular and Neuronal Transport
Genes Are Directly or Indirectly
Affected by IKBKAP Downregulation.
Researchers had assumed that the SMA
gene, essential for the survival of motor
neurons,
affected only that particular type of
neuron.
It is located on the long arm of chromosome 15 in the LINGO1
gene, which encodes a protein that has been shown to
affect how
neurons are formed and signal each other.
Scientists at the Whitehead Institute used CRISPR / Cas9
gene editing method to restore activity to the fragile X syndrome
gene in
affected neurons.
By
affecting the rate of cell differentiation and
gene expression, thyroid hormones regulate the growth and migration of
neurons, including synaptic development and myelin formation in specific brain regions.