Descubrimiento de 60 nuevos genes vinculados al autismo

El trastorno del espectro autista es una discapacidad del desarrollo causada por diferencias en el cerebro.

Investigadores de la Universidad de Columbia han identificado 60 nuevos genes de autismo.

Un estudio reciente realizado por Universidad de Colombia Los investigadores han identificado 60 genes asociados con el trastorno del espectro autista (TEA), que pueden proporcionar pistas valiosas sobre las causas del autismo en todo el espectro del trastorno.

«En general, los genes que encontramos pueden representar una clase diferente de genes que están más directamente asociados con los síntomas centrales del trastorno del espectro autista que los genes descubiertos previamente», dice Wendy Chung, MD, Profesora de Pediatría de la Familia Kennedy y jefa de genética clínica en la División de Pediatría niños en[{» attribute=»»>Columbia University Vagelos College of Physicians and Surgeons.

The findings were recently published in the journal Nature Genetics.

A number of genes have previously been connected to autism, and together, they are responsible for 20% of all cases. Most people with these genes have severe forms of autism as well as other neurological conditions including epilepsy and intellectual disability.

The researchers used data from over 43,000 autistic individuals, including 35,000 participants from the SPARK autism research program of the Simons Foundation, to find hidden autism genes that potentially explain the majority of cases.

Five of the new genes identified had a more moderate impact on autistic symptoms, including cognition, than previously reported genes.

“We need to do more detailed studies including more individuals who carry these genes to understand how each gene contributes to the features of autism, but we think these genes will help us unravel the biological underpinnings that lead to most cases of autism,” Chung says.

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The five newly discovered genes also explain why autism often seems to run in families. In contrast to previously known autism genes, which were caused by de novo or new mutations, genetic variants in the five new genes were often inherited from the participant’s parents.

According to Chung, many more moderate-effect genes are still undiscovered, and identifying them would help researchers better understand the biology of the brain and behavior across the full spectrum of autism.

Reference: “Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes” by Xueya Zhou, Pamela Feliciano, Chang Shu, Tianyun Wang, Irina Astrovskaya, Jacob B. Hall, Joseph U. Obiajulu, Jessica R. Wright, Shwetha C. Murali, Simon Xuming Xu, Leo Brueggeman, Taylor R. Thomas, Olena Marchenko, Christopher Fleisch, Sarah D. Barns, LeeAnne Green Snyder, Bing Han, Timothy S. Chang, Tychele N. Turner, William T. Harvey, Andrew Nishida, Brian J. O’Roak, Daniel H. Geschwind, The SPARK Consortium, Jacob J. Michaelson, Natalia Volfovsky, Evan E. Eichler, Yufeng Shen, and Wendy K. Chung, 18 August 2022, Nature Genetics.
DOI: 10.1038/s41588-022-01148-2

The study was funded by the National Institutes of Health and the Simons Foundation. 

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