PTEN Gene and Autism

Mice with the PTEN gene knocked out in parts of the hippocampus and frontal lobe of the brain began to exhibit autistic-like traits. Researchers also observed thicker nerve cells in the mice’s brains as well as more neuronal connections than normal.

Unlike “normal” mice, PTEN knockout mice:

• Showed no interest in strange mice.
• Were equally interested in another mouse and an inanimate object.
• Ignored new nesting material.
• (Females) were unable to care for their young with many dying.
• Became very stressed in open spaces.
• Became very stressed when gently picked up by humans.
• Were much more stressed by sudden noises.

PTEN knockout mice didn’t exhibit the full range of behavior normally observed in autistic humans, however, such as repetitive behaviour or movements.

Dr. Luis F. Parada:

The exciting thing about these mice is it helps us to zero in on at least one anatomic location of abnormality, because we targeted the gene to very circumscribed regions of the brain. In diseases where virtually nothing is known, any inroad that gets into at least the right cell or the right biochemical pathway is very important.

That’s exactly right. We’re at the point where new relationships between genes and disease are being discovered without fully understanding the biology underlying the relationship. But every little step helps to elucidate complex disease pathogenesis towards a treatment or a cure.

For more about autism advocacy, visit our sister blog – Autism Vox.

Medical News Today, May 4, 2006
Neuron, May 4, 2006

Technorati Tags: autism, autistic, genetics, genes, health, dna, disease, genomics, genome, pten