New breakthrough in what causes Autism

 
Related

Rescued bear, lion and tiger "brothers" refuse to be separated after 15 years together

Puyol Mos
794 points

Human Trials For A Vaccine That Destroys Cancerous Tumors Just Began

Puyol Mos
650 points



Most recent

Divorcio Unilateral: Una Nueva Legislación en Colombia

Carlos Eduardo Lagos Campos
46 points

La gestión de riesgos obstaculiza la innovación

Patricia Amaya Comunicaciones
14 points

IFFA Frankfurt 2025: La revolución global en el procesamiento cárnico y proteínas alternativas

Yesid Aguilar
6 points

Islas mediterráneas que debes visitar al menos una vez en la vida

MaríaGeek
18 points

La lucha por un tránsito justo: una reflexión sobre el panorama en San Juan del César la Guajira

Luis Horgelys Brito Ariza
140 points

MENOSPRECIANDO LAS HERIDAS SOCIALES

Octavio Cruz Gonzalez
12 points

Asobares Colombia y la fiesta del país, presentes en FITUR 2025

Yesid Aguilar
18 points

¡Vacaciones sin riesgos! Asegure su hogar y olvídese de las preocupaciones

Yesid Aguilar
18 points

¿Cuál es la esperanza de vida de un enfermo que sufre la FSHD? (Distrofia Facioescapulohumeral)

Charlas con la IA
12 points

¿Cómo inmortalizar tus datos con el archivo empresarial en tiempo real?

Patricia Amaya Comunicaciones
14 points
SHARE
TWEET
Scientists are now one step closer to understanding how genetic mutations contribute to autism. In a study released Thursday in the journal Cell, experts from UNC School of Medicine discovered how one specific autism-linked gene mutation actually works.

New breakthrough in what causes Autism

This is the first time scientists have observed how a common type of mutation, known as a missense mutation, could contribute to autism.

“There’s a revolution that’s taking place in the area of autism genetics right now,” says study author Mark Zylka, PhD, associate professor at UNC School of Medicine. Thanks to recent advances in technology, it’s now possible to sequence human genomes relatively inexpensively. “From these sequencing studies, thousands of mutations have been turning up in hundreds of genes, and this mutation is one of those mutations,” Zylka tells Yahoo Health.

Specifically, the new finding relates to an enzyme known as UBE3A. Normally, the enzyme is tightly regulated. But Zylka’s team discovered that an autism-linked gene mutation disrupts the on/off switch that controls the enzyme. As a result, the enzyme is constantly on.

In the body, the role of the enzyme UBE3A is to tag other proteins for destruction. “It’s sort of like if you have garbage and you want to get rid of it, you can tag it with a flag for somebody to pick it up and throw it out. That’s essentially what UBE3A does,” Zylka says. The mutation causes the enzyme to tag normal proteins nonstop, which is presumably what leads to autism pathology.

To test their hypothesis that the mutation contributes to autism, the researchers introduced the gene mutation into the brains of mice. The results: Compared to controls, the genetically altered mice showed the same type of brain changes seen in individuals with autism. “Not only was this hyperactivating mutation identified in individuals with autism, when put into a mouse model, it gave a brain pathology that looked like autism,” Zylka says.

It’s important to note that this finding is only one piece of a larger puzzle. Researchers have identified about 1,000 genes related to autism, each of which may play a part in the disorder, which affects 1 in 68 children in the U.S.

Part of the reason the genetics of the disorder are so complex, Zylka explains, is that autism itself is complex. “Sometimes we abbreviate it as ‘someone has autism,’ but clinically, it’s known as autism spectrum disorder. No two kids look completely alike,” Zylka says. “And that probably relates to the fact that there are literally going to be hundreds of different genes that can get you the core symptoms, and when you hit certain genes you’ll get some of the associated symptoms.”

Fuente: www.yahoo.com
SHARE
TWEET
To comment you must log in with your account or sign up!
Featured content