Scientists have released pathogenic molecular mechanism of autism

Wu Bailin research group from Harvard University Boston Children's Hospital and Fudan University and Qiu Zilong research group from the Chinese Academy of Sciences Institute of Neuroscience completed a study to reveal the pathogenic molecular mechanism of autism. Related research results have been published online recently in the journal Molecular Psychiatry, which also has other studies on recombinant human proteins.

Autism is a complex hereditary syndrome and neuropsychiatric development of disease mostly in early childhood and there is no effective drug treatment. The study of basic and clinical research on autism and related animal models has become one of the hotspots in the field of medicine and neuroscience.

The researchers screened nine missense mutations of the DYRK1A gene in autistic patients and studied the function of Dyrk1a in the process of cell growth and cortical development by constructing mutant Dyrk1a. It was found that Dyrk1a plays an important role in the process of neurodevelopment, and the two nonsense mutations associated with autism have led to a functional loss of the DYRK1A protein.

The study suggests that the genetic mechanism associated with the disease is very complex, and the DYRK1A gene located on chromosome 21 is one of the autism candidate genes identified in recent years. The gene is well known for its role in Down's syndrome. Exon sequencing data show that autism patients also detected DYRK1A gene mutation, so the degree of correlation between this gene and autism has become an urgent scientific question which needs to be answered.

To this end, the researchers constructed the wild type, Dyrk1a_shRNA and nine mutant Dyrk1a plasmids of the gene. And the control group was expressed in mouse cortical neurons, rat hippocampal neurons and in vivo embryonic cortical cells, and they observed the growth and development of various types of cells.

The study firstly provides a functional study of neurodevelopmental-related mutations in DYRK1A, an important autistic candidate gene, which provides an important basis for further study of DYRK1A gene function and the pathogenesis of pathogenic molecules for autism. Flarebio offer high-quality recombinant proteins like recombinant CDH2 at competitive prices.