Necdin: a new genetic driver of autism discovered

Necdin: a new genetic driver of autism discovered

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Necdin: a new genetic driver of autism discovered

A research group of the division of physiology of the Graduate School of Medicine, revealed in the Necdin, ( NDN ), a causal gene. The hope of the researchers is to be able to fully understand the molecular mechanism of the NDN gene, to be able to develop new, more effective therapeutic strategies useful in developmental disorders, including autism.

Necdin: a new genetic driver of autism discovered

Illustration of the experiment. Green fluorescent proteins were introduced so that the target gene and the entire neuron could be observed. B: Each target gene was introduced separately into the cerebral cortex and the dynamics of the dendritic spine was monitored for a period of 2 days (on the 21st and 22nd days after birth). The yellow arrows indicate newly formed thorns and the red arrowheads indicate the removal of the thorns. C: The quantified results of B in the form of a graph. D: Classification data of the morphology of the spine on the spines that formed when it was introduced Ndn. Philopedia, a type of immature spine formation, has increased significantly since the introduction of Ndn. Credit: University of Kobe

There Research, carried out by TakumiToru ofUniversity of Kobe (also Senior Visiting Scientist at the RIKEN Center for Biosystems Dynamics Research) and the assistant professor Tamada Kota, both from the Physiology Division of the Graduate School of Medicine, was published in the journal Nature Communications.

Necdin: Here’s what the research says

Despite the diagnoses of autism spectrum disorder are on the rise, many aspects that characterize it are still poorly understood by medical research. The causes are divided into genetic factors is environmental factors. As for the genetic factors There were particular variations in copy number in patients autistic:for example, duplication of chromosome 15q11-q13. These anomalies in the 15q11-q13 region are subdivided into cases of chromosomal duplication of maternal and paternal derivation.

It is understood that the Ube3a gene drives chromosomal duplication of maternal origin. However, it is not known which gene is vital for paternal duplication.

The research team of the Graduate School of Medicine has previously succeeded in developing a 15q11-q13 duplication mouse model (15q dup mouse). Using this mouse model, they identified numerous abnormalities in cases of paternal chromosomal duplication, including autism-like behaviors and abnormalities in the formation of dendritic spines.

However, the researchers were unable to identify which gene is responsible for autism-like behavior because this region contains many molecules of RNA non-coding and protein-coding genes.

Necdin: a new genetic driver of autism discovered

Necdin: a new genetic driver of autism discovered

15q dupΔNdn mouse creation diagram. The copy of the Ndn gene was removed from the original 15q dup autism mouse model. B. Rate of dendritic spine formation in 15q dupΔNdn mice. C and D: Quantification of inhibitory synapses. Credit: University of Kobe