Baby Steps
Every day, the study of genetics is changing the face of
medicine. The more we have come to
understand about the human genome, the more we understand when it comes to
diagnosis and treatment of our diseases. In a recent story
on Medical News Today, a team of researchers at Johns Hopkins University tracked
“a mutation in the gene Neuronal PAS domain protein 3 (NPAS3)” through a family
with a history of mental illness.
The study, led by Frank C. Nucifora Jr, PhD, DO, MHS, found a connection
between NPAS3 and Schizophrenia. NPAS3
is the gene behind healthy neuron development and regulation – specifically in
the region of the brain targeted by Schizophrenia, the hippocampus. A mutation in the gene found in multiple
members of the family “caused the NPAS3 to function improperly.” Responsible for “the production of a protein containing
933 amino acids,” the harmful genetic abnormality impacts brain development.
“We showed that the mutation does change the function of
NPAS3, with potentially harmful side effects in neurons,” commented
Nucifora. “The next step is to figure
out exactly how the genetic disruption alters neuronal function, and how these
abnormal neurons influence the broader function of the brain.”
Studying a mother and two children with schizophrenia, as
well as another child in the same family with depression, researchers found that
they “all shared the same mutant genetic variation of NPAS3.” The mutated genes were later analyzed in
comparison with normal NPAS3 genes -- as the only difference in the mutated
gene was an isoleucine that had taken the place of a valine. The only physical difference between the two
was in their extensions, which enable NPAS3 to establish “good neuronal
connections with other cells.” The extensions
in the normal gene were long, while its mutated counterpart’s were much shorter
in comparison.
Although the researchers “are not yet sure how this change affects the function
of the gene,” the results of studying NPAS3 could give information about other
genes mutations and their link to mental illnesses like schizophrenia. As genetic research continues, the
exploration of the human genome unveils new information. Breakthroughs like the
research into NPAS3’s connection to schizophrenia are baby steps to what could
possibly be great strides in diagnostics and treatment.