Researchers discuss genetics of mental illness

By JENNIFER LEWANDOWSKI

Reporter Contributor

Carlos N. Pato and Michele T. Pato, a husband-and-wife team of psychiatrists at UB, shared some of the latest developments in their research on "Breaking the Genetic Code of Mental Illness" during Tuesday's "UB at Sunrise" lecture.

The Patos, both associate professors of psychiatry and co-directors of the UB Laboratory of Psychiatric and Molecular Genetics, shared highlights of their latest research-a $4.2 million project on bipolar disorder in the Azores. The study, which seeks to isolate a gene or genes with a possible link to the disorder, is funded by the National Institutes of Health.

The Patos also shared some of the findings of their ongoing, $2.6 million project on schizophrenia, also being conducted in the Azores, which was funded by the NIH in 1997.

Michele Pato explained that despite many of the medical breakthroughs in mental illness, it's still very much a descriptive science.

"When I talk about something like schizophrenia, I'm really talking about a group of schizophrenias," she said. "Not everyone has the same genetic schizophrenia."

Genetically isolating different types is a tricky part of the research conducted by the Patos.

"Even though we have descriptives, we don't have a lot of biological markers," she said. "This has presented a challenge in doing our work."

Like schizophrenia-which can be characterized by symptoms such as disordered thinking, delusions, hallucinations, paranoia or general deterioration of personality-different types of bipolar disorder may exist, she said. Bipolar disorder-also referred to as manic depression-often is characterized by dramatic mood swings, ranging from manic periods to periods of depression. While bipolar disorder may afford periods of relatively normal functioning, she said, schizophrenia is a more deteriorative disease.

The researchers cited a distinct link between heredity and increased risk of disease, but didn't discount the potential effects that non-genetic factors play in expression of the illnesses. The couple reported that the general population has a 1 percent incidence of schizophrenia and a .7 percent incidence of bipolar disorder. However, if a parent or sibling suffers from schizophrenia or bipolar disorder, the Patos found the risk for illness in a child increases to between 10 and 15 percent. The risk factor also increases if both parents have the illness, the Patos said.

They chose the Azores as the site for their research because of the relatively homogeneous population located on the nine-island cluster, which spans 800 miles from the farthest points of the islands. Carlos Pato pointed out that the population of the Azores, which numbers around 250,000, is roughly 80 percent more homogeneous than a United States population sample.

"(The Azores) did not have any native population," he said, adding that the islands were settled in the 1400s in "a programmed way." He estimated that 2,000 or 3,000 families served as the base for the islands' current population.

For the bipolar study, the Patos are working with 24 families and are looking at specific phenotypes-the outward appearance of the disease-in order to obtain a different expression of genotypes-how the disease is genetically transmitted from parent to child.

"We need to try to subspecify what we think is an illness," Carlos Pato said. "Rather than looking at 20 illnesses that look alike, maybe we'll only look at three or four. Then we can start teasing apart what's going on."

While their research for both illnesses continues to take shape, the couple is optimistic that improved treatment-perhaps even a cure-is in the future.

Carlos Pato likened a potential treatment to one in place for cystic fibrosis. With the gene already identified that will improve the patient's condition, one is able to place that gene into a vector-essentially a harmless virus-that, when inhaled, "infects" the individual with the cure.

But there's just one problem.

"(The) immune system reacts as if it is a cold, and in two weeks (you) have a problem again," he said.

This shortcoming aside, is something like this within the realm of possibility for mental illness?

The Patos say yes.

"You can restore normal function; it's conceivable," Carlos Pato said.