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Three alumni join Board of Trustees
By Hannah Marr, News Editor • June 21, 2024

GW study shows link between autism and testosterone

A gene linked to autism is sensitive to the male sex hormone testosterone, providing a clue as to why the disease affects males at much higher rates than females, a GW study found.

With no current cure for autism, the University spearheaded a multi-department research initiative beginning this past fall to better understand the brain disorder.

“You have to look at [autism] from many different angles,” Dr. Valerie Hu, the study’s lead author and a professor in the Department of Biochemistry and Molecular Biology, said. Hu has been investigating the biological components of autism for 6 years.

In the study, Hu and her research partners unlocked two key biological pieces of the disorder. The relationship between the retinoic acid-receptor-related orphan receptor (RORA), a gene often suppressed in autistic individuals, and aromatase, the enzyme produced by the gene, creates a “loop” effect that doubly protects females from the disorder, while increasing male probability.

Autism affects males at four times the rate of females, according to data from the Centers for Disease Control and Prevention.

The researchers found that testosterone decreases the levels of RORA in the brain tissue, which then hinders the enzyme aromatase from converting testosterone to estrogen, the primary female sex hormone. The excess levels of testosterone only further stifle the presence of the gene, increasing the likelihood of autism.

Hu hopes these findings will provide a new molecular target for the treatment of the disease, though the end goal of her research efforts is to discover a method to identify autism in its earliest stages.

“Autism is extremely heterogeneous in its manifestation,” Hu said, whose previous research identified different sub-groups and strains of the disease.

Members of Hu’s research team each brought their own expertise to the study. Assistant biochemistry professor Ray-Chang Wu provided critical insight to autism’s overlap with cancer, which is the primary focus of his personal research.

Minyi Xu, who recently graduated with a master’s degree from GW, built the foundation of the study by observing the manifestation of sex hormones on the gene. Second-year Ph. D. student Tewarit Sarachana then demonstrated the reduction of RORA in an autistic brain.

“You can do all kinds of studies in a dish, but does it really apply to the human brain?” Hu said, emphasizing the importance of Sarachana’s work.

Research conducted by Sarachana and two-dozen other faculty members will eventually contribute to the beginnings of an official institute for the research and treatment of autism at the University, to be created in partnership with Children’s National Medical Center, in D.C.

Autism is one of 10 research areas the University is pursuing in an effort to become a top-tier research institution. In addition to the biological component of the University’s autism research, students in the Graduate School of Education and Human Development are studying autism in early childhood education with a $1.2 million grant from the Department of Education.

“I strongly believe that if we understand the underlying biological pathways that are negatively impacted and understand how those networks are regulated, one day we will find a cure for autism,” Sarachana said.

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