Nature sub Journal:CRISPR found the ALS treatment points

introduction: recently, the U.S. National Institutes of Health-funded researchers at Stanford University, the use of gene editing tool CRISPR-Cas9 quickly identified the C9orf72 mutation is the modification of human amyotrophic lateral sclerosis and frontotemporal dementia severity of the gene. The study, published in the Nature Genetics magazine, The paper also exposed a set of accelerated patient neuronal cell death of the underlying genes. Game industry xiaobian for you to recommend“Nature sub journal: the CRISPR discovery in ALS treatment points”, as follows:

The US National Institutes of Health-funded researchers at Stanford University, the use of gene editing tool CRISPR-Cas9 quickly identified the C9orf72 mutation is the modification of human amyotrophic lateral sclerosis（amyotrophic lateral sclerosis, ALS, and frontotemporal dementia（frontotemporal dementia, FTD）the severity of the gene. The study, published in the Nature Genetics magazine, The paper also exposed a set of accelerated patient neuronal cell death of the underlying genes.

nearly 40% of hereditary ALS cases and 25% of hereditary FTD cases the pathogenic mutation is due to the C9orf72 is inserted into the additional DNA sequence, this mutation type is known as the six-nucleotide repeat sequence hexanucleotide installed or support it. Repeat to produce a sequence of potentially toxic RNA and protein can kill neurons, resulting in motor neuron injury in ALS patients paralysis, weakness, FTD patients with language and decision-making function is impaired.

Aaron D. Gitler, PhD and Michael C. Bassik, Dr. under the leadership of the research team used CRISPR-by-the loss of the living classes of leukemic cells for each gene to test whether the cells can be in the six-nucleotide repeat sequence to drive the toxicity of the protein DPRs process under survival. If the cells live longer or die faster, are described inactivation of the gene may be DPR toxicity the focus of the suspects.

The study ultimately confirmed, the control of molecules in and out of the nucleus motion of the genes might be an accomplice. In addition, there are some new genes, including modification of the chromosome and help the cell assemble proteins through the endoplasmic reticulum（ER）of the genes.

The second round of the CRISPR screening object is a mouse brain cells. In leukemia cells identified in 200 key genes may help the mice neurons in the DPR exposure survival.

finally, they further verified the ER gene of importance, especially TMX2 gene. For example, researchers from ALS patients carrying the C9orf72 skin cells to induced neurons, TMX2 gene silencing of cells the survival time is greater than the ordinary cells. This finding suggests that TMX2 gene may be directed to ALS of a new treatment method.

The authors inference, reducing cell TMX2,“survival proteins”the yield increase, thereby protecting the cells from DPR protein of the poison.

in the past, such studies can only in yeast, nematodes and flies in the genome one by one test. CRISPR gene editing technology leap, so that the researchers only spend 2 weeks time will be able to complete the entire human genome in a comprehensive search. This faster, more thorough method can also be used for other neurological disease-related genes of the Quick identification.

text retrieved:

Kramer et al. CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9orf72 dipeptide repeat protein toxicity, March 5, 2018, Nature Genetics; DOI: 10.1038/s41588-018-0070-7

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