Excerpt from story by NICHOLAS WADE, New York Times
The long search for a gene that helps cause schizophrenia may at last
be bearing fruit after many false starts and disappointments, scientists
are reporting.
An errant gene first implicated among schizophrenic patients in Iceland
has now turned up in a survey of Scottish patients, too, giving a clear
confirmation of the earlier result.
The gene may be involved in remodeling the connections that brain cells
make with one another, called synapses. Many of the Icelandic and Scottish
patients have the same variant pattern in the gene, supporting the idea
that when the gene does not work as designed, wrongly formed nerve-to-nerve
wiring accumulates in the brain, giving rise to schizophrenia.
Not all schizophrenics carry the variant and many people carry it without
a problem, an expected pattern in diseases caused by several genes. But
in both populations, inheriting the variant form of the gene appears to
double the risk of schizophrenia.
The finding, if correct, would bolster the strategy followed by Decode
Genetics, a company based in Reykjavik that is using the Icelandic population
to search for the genetic roots of common diseases like cancer, diabetes,
heart disease and Parkinson's. The schizophrenia-related gene is one of
the first it has found.
Dr. Kari Stefansson, a former Harvard neuropathologist who is the company's
chief executive, said Decode and its partner, the drug company Roche,
were developing new drugs to counteract the aberrant gene's effects but
could not say when any would be ready for clinical testing.
A defect in neuregulin-1, he suggested, might lead to an accumulation
of wrongly formed synapses, accounting for the progressive nature of the
disease. It might also explain why environmental factors as well as heredity
contribute to schizophrenia, as shown by the fact that if one identical
twin has the disease the other has only a 30 to 50 percent chance of developing
it.
Dr. Stefansson said he had a considerable emotional investment in the
disease because his elder brother has schizophrenia.
The variation discovered by Decode Genetics is a set of seven genetic
differences that spans the beginning of the neuregulin gene, which is
located on the eighth of the 23 pairs of human chromosomes. Dr. Stefansson
said he guessed that the seven changes might in some unexplained way be
altering the amount of protein the gene could produce. ...
Dr. Kendler said the progress with the two genes "induces a bit
more optimism in a field that has had some difficult times."
|