Researchers Into Lysosomal Storage Find Common Ground

By Marc Tracy

Published August 25, 2006, issue of August 25, 2006.
  • Print
  • Share Share

Earlier this year, the Lysosomal Storage Disease Research Consortium awarded its first seven grants, which together total more than $200,000, to scientists conducting research into ameliorating the effects of lysosomal-storage diseases on the central nervous system. There are more than 40 of these diseases, called LSDs, including Tay-Sachs, Gaucher disease, mucopolysaccharidosis (MPS) and Niemann-Pick disease.

The consortium maintains a collaborative relationship with the National Institute of Neurological Disorders and Stroke, a branch of the National Institutes of Health. Scientists whose grants are rejected by NINDS have the option of applying for an LSDRC grant to obtain further data, with the understanding that, after more research, they will reapply for the original NINDS grant.

“The beauty of this is that our money helps to facilitate their research, such that they have results that would allow them to apply to the NIH and get the larger money,” said Barbara Wedehase, the executive director of the National MPS Society. It and the National Tay-Sachs & Allied Diseases Association initiated the consortium, though several other LSD organizations now participate as well.

Those who suffer from LSDs lack an enzyme — which enzyme is missing depends on the disease — necessary for cellular processes to occur properly. What results is the accumulation of unwanted material in the lysosome, a part of the cell. The results can range from joint pain and anemia (in the case of Gaucher) to limited motor function and even death (in the case of infantile Tay-Sachs).

The consortium arose with the realization that “by joining funds together, we would be able to serve a greater number of people,” Wedehase said. Dr. Mark Sands, who sits on the LSDRC’s grant-review committee, noted the consortium’s utility: “The underlying biology is really very similar” among the several LSDs, he explained. “Discoveries in one field could really impact dramatically other diseases.”

The majority of LSDs sufferers have neurological symptoms. “The brain remains the most difficult challenge,” said Dr. Mark Haskins, the chair of the Grant Revi

Focusing research on the brain would appear to favor Tay-Sachs, which is largely neurological, as opposed to Gaucher, whose sufferers exhibit no neurological symptoms. Both diseases disproportionately afflict Ashkenazic Jews. One grant recipient is Dr. Synthia H. Mellon, of the University of California, San Francisco. She is investigating whether neurosteroids, a class of compounds derived from cholesterol, can be used to replace the product that would otherwise be created by the missing enzyme in an LSD patient — in this case, a Tay-Sachs patient. NINDS turned her down; she’s currently using her LSDRC grant to obtain further data from animal models.

“This consortium was willing to take the chance, to see, Will it work or not?” Mellon said. “And if it does work, there will hopefully be a bigger payoff.”

Haskins said that the LSDRC was a step in the right direction, but not a panacea. “It’s not the one-bullet theory, where if you solve one LSD you solve them all,” he said. “But any insights we can gather on how to improve function in LSDs will spill over into other LSDs.”






Find us on Facebook!
  • Israelis are taking up the #IceBucketChallenge — with hummus.
  • In WWI, Jews fought for Britain. So why were they treated as outsiders?
  • According to a new poll, 75% of Israeli Jews oppose intermarriage.
  • Will Lubavitcher Rabbi Moshe Wiener be the next Met Council CEO?
  • Angelina Jolie changed everything — but not just for the better:
  • Prime Suspect? Prime Minister.
  • Move over Dr. Ruth — there’s a (not-so) new sassy Jewish sex-therapist in town. Her name is Shirley Zussman — and just turned 100 years old.
  • From kosher wine to Ecstasy, presenting some of our best bootlegs:
  • Sara Kramer is not the first New Yorker to feel the alluring pull of the West Coast — but she might be the first heading there with Turkish Urfa pepper and za’atar in her suitcase.
  • About 1 in 40 American Jews will get pancreatic cancer (Ruth Bader Ginsberg is one of the few survivors).
  • At which grade level should classroom discussions include topics like the death of civilians kidnapping of young Israelis and sirens warning of incoming rockets?
  • Wanted: Met Council CEO.
  • “Look, on the one hand, I understand him,” says Rivka Ben-Pazi, a niece of Elchanan Hameiri, the boy that Henk Zanoli saved. “He had a family tragedy.” But on the other hand, she said, “I think he was wrong.” What do you think?
  • How about a side of Hitler with your spaghetti?
  • Why "Be fruitful and multiply" isn't as simple as it seems:
  • from-cache

Would you like to receive updates about new stories?




















We will not share your e-mail address or other personal information.

Already subscribed? Manage your subscription.