Gaucher’s Link To Parkinson’s
Wed, 05/05/2010
Staff Writer
Dr. Ellen Sidransky: Organized study finding connection between Gaucher’s disease and Parkinson’s.
Dr. Ellen Sidransky: Organized study finding connection between Gaucher’s disease and Parkinson’s.

Researchers have been trying for decades to determine genetic or environmental causes of Parkinson’s disease. They have explored consumption of traces of aluminum in food, environmental toxins such as carbon monoxide and some pesticides and even head trauma.

 Last October’s research paper in the New England Journal of Medicine, however, may have offered the most direct evidence yet of one causal factor — the presence of a rare gene that causes Gaucher’s disease, a disorder caused by a deficiency of the enzyme glucocerebrosidase (GBA), which breaks down a fatty substance that can accumulate in vital organs. The Gaucher’s gene is found in 1 in 15 Ashkenazic Jews, as opposed to 1 in 100 other Americans.

Parkinson’s produces a shortage of cells that produce the neurotransmitter dopamine, which controls motor functions.

Researchers from the National Human Genome Research Institute studied patients at 16 medical institutions around the world, and compared GBA variants in 5,691 Parkinson’s patients, including 780 Ashkenazi Jews, compared to 4,898 healthy people, including 387 Ashkenazi Jews.

The result was that more than 15 percent of Ashkenazi Jews with Parkinson’s carried the gene, compared with 3.4 percent of healthy Jews, and in general the number of Parkinson’s patients who carried the gene was five times higher than those who don’t. That does not mean that Gaucher’s causes Parkinson’s, since a large share of carriers does not develop Parkinson’s.

Dr. Ellen Sidransky, who organized 64 researchers to carry out the study, told The Jewish Week Monday that the study does not call for those who might carry a single Gaucher’s gene — it takes genes from both parents to get the disease — to be tested. 

“Manifestations can range greatly for [Gaucher’s] — from people who have it all their life and don’t get sick to people who are incapacitated as children,” said Sidransky, a senior investigator with the National Institutes of Health’s Clinical Neuroscience Branch. “Parkinson’s is a more complex disorder that involves multiple genes and environmental and other factors, so the predictiveness of genetic screening is really quite different.”

Even for those who may see themselves at higher risk for Parkinson’s, there is little to be done to ward it off. “Right now there isn’t anything that can prevent someone from getting Parkinson’s,” said Sidransky. “There is some epidemiological evidence that if you drink coffee you have a smaller chance of getting it. But you’re playing chance games.”

Some studies have also shown that omega-3 fatty acids found in fish oil can protect brain cells from Parkinson’s and other diseases. Another study recently found that long-term smokers are less likely to develop Parkinson’s, although doctors note that this does not necessarily mean cigarettes, which cause numerous fatal health conditions, are a means of prevention, although the finding does open areas of study of the disease.

Sidransky noted that her study only shows one side of the picture: that many Parkinson’s patients carry a Gaucher’s gene. “Nobody has ever followed thousands of people who are known to have Gaucher’s genes to see how many of them get Parkinson’s when they get older,” she said. “That’s much harder to do.”

While there is no cure for Parkinson’s, treatments are improving and Sidransky said the Gaucher’s link offers promise of better understanding the disease. 

“We are looking at animal models, cell biology, different proteins,” she said. “Once we figure out why these two things are related then we might be able to design therapies that are directed to people who have the mutations. The more you understand the mechanisms of diseases the more you have specific pathways to target it for drugs.”

 

 

Jerusalem, Komen Group

Teaming In

Breast Cancer Battle

 A leading breast cancer organization and the city of Jerusalem are teaming up.

Jerusalem Mayor Nir Barkat and Nancy Brinker, founder and CEO of Susan G. Komen for the Cure, at a news conference here Wednesday announced the start of the Israel Breast Cancer Collaborative this fall.

Events from Oct. 25 to 29 will feature a think tank on early detection, the Race for the Cure, and the Israel Mission delegation of scientists, cancer survivors and activists who want to serve the breast cancer movement in Israel.

The Race for the Cure on Oct. 28 will be held outside the walls of the Old City of Jerusalem, but Barkat said the route has yet to be determined. The Komen group is expecting 7,000 participants.

Asked whether there would be outreach to Palestinians who want to attend, the mayor pledged to make the event accessible, describing it as a “bipartisan, non-political event.” Barkat joked later, “As requested, the city walls will be pink.”

Brinker said the collaboration is not the beginning of the Komen group’s work in Israel.

“Sixteen years ago, Susan G. Komen’s very first international research grant went to Israel,” she said. “Since then we have funded nearly $2 million in scientific research and community outreach.”

Brinker said the collaborative will allow her organization to continue its work with current global partners such as the American Jewish Joint Distribution Committee and Hadassah, as well as new partners in Israel such as the Israel Cancer Association.

Nancy Falchuk, president of Hadassah, the Women’s Zionist Organization of America, pledged her organization’s support of the Collaborative, and promised to bring walkers from Hadassah’s global branches.

Sen. Joseph Lieberman (I-Conn.) and his wife, Hadassah, and former ambassador Ned Siegel and his wife, Stephanie, are co-chairs of the collaborative. Joining the partnership are Breakthrough, a charity established in the United Kingdom; the Canadian Breast Cancer Foundation; and Sharsheret, a nonprofit organization for young Jewish women facing breast cancer.

 

Israeli Doctor

Discusses Haiti Earthquake Mission

The one striking thing Dr. Shir Dar noticed about the victims of January’s earthquake in Haiti was their demeanor as they sought medical aid at the Israeli field hospital he helped set up near the airport in Port-au-Prince.

“They were polite,” he told a UJA-Federation breakfast last week in Great Neck, L.I. A special UJA-Federation campaign had raised $1 million for Haitian relief.

Dar, 39, a gynecologist at Hadassah Hospital and the Israel Defense Forces, said he was in the operating room at 1 p.m. when he was informed of the earthquake. He was told his reserve unit was being called up and that he was to pack enough clothes for from two weeks to one month. At 6 a.m. the next morning, he was at the airport ready to go for the 18-hour flight.

“We were 300 people — 150 from home-based command to handle search and rescue — and our mission was to build a hospital. We all lifted off at the same time” in two El Al planes specially outfitted for the mission.

Asked why Israel deployed such a large contingent, Dar replied: “The Israeli army has a lot of experience because of war, but it is also part of who we are because we are Jews — and we can help.”

An Israeli advance team of five officers — who had arrived in Haiti eight hours after the earthquake — arranged for the El Al planes to land in Port-au-Prince instead of at the other end of the island in the Dominican Republic. That saved the Israeli team an eight-hour truck ride.

“The five officers also found the Jews of Haiti,” Dar said, adding that one of them allowed the Israelis to set up their field hospital on his property. 

“He also gave us gas for our generators and trucks,” Dr. Dar said. “We had planned to start working 24 hours after landing; we started after 10 because patients were gathering as we were putting up our tents.”

The medical team saw 1,111 patients, performed 314 operations, evacuated 50 patients by air to an American ship hospital, and handled the births of 16 babies — including two sets of twins. One of the mothers named her child “Israel” in appreciation. 

“For one week we were the only hospital operating there,” Dar said. “Our big advantage is that we came with equipment.”

 

 

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