American Chemical Society: In recent years, scientists have found a surprising a connection
between some people with autism and certain cancer patients: They have
mutations in the same gene, one that codes for a protein critical for
normal cellular health. Now scientists have reported in the ACS journal Biochemistry
that the defects reduce the activity and stability of the protein.
Their findings could someday help lead to new treatments for both sets
of patients.
Ronald T. Raines and Sean B. Johnston explain that a small subgroup
of people with autism and many patients with uninherited cancers have
abnormalities in the genetic blueprint for a protein called PTEN. This
protein helps promote genetic stability, repair DNA and regulate cell
growth. Glitches in these processes can lead to uncontrolled cell
proliferation and disease. But researchers have yet to fully understand
how defective versions of the protein contribute to the development of
autism and cancer. Raines and Johnston wanted to flesh out a piece of
that puzzle.
In the lab, the researchers tested PTEN proteins from patients with
three different kinds of cancer and from patients with PTEN-related
autism spectrum disorders. They found that the compromised proteins,
particularly from the cancer patients, easily lost their shape and
couldn’t function well at body temperature. They conclude that drugs
designed to stabilize these fragile proteins could represent a promising
direction for new therapies.
The authors acknowledge funding from the National Institutes of Health and Autism Speaks.