June 1 Meeting at MGH

June 1 Meeting at MGH
Submitted by Ellen Burns, Medical Liaison

On June 1, 2007, a small group gathered in a first floor conference room of Building 114 at the Massachusetts General Hospital East complex in Charlestown, Massachusetts. Dr. Robert H. Brown, Jr. and Dr. Florian Eichler welcomed Eric Newcomer, Larry Deater, Kristen Kirk Paladino, Rory Robb and Ellen Deater Burns to a meeting providing an update on research on HSN-1.

Dr. Brown reviewed the research from the discovery of the gene for HSN-1 in 2001 through the development of the mouse models for HSN-1, illustrated with a Power Point presentation. Dr. Brown and Dr. Eichler explained the results of the most recent research on the mice with HSN-1.

  • A mouse lives about 2 years. Six to eight months of age is early adulthood for a mouse.
  • Tests on the mice for sensitivity to pain and heat showed hypersensitivity early in the disease. Eric and Larry confirmed this symptom. Hypersensitivity usually precedes the loss of nerves.
  • As the mice got older, they got worse—sensitivity to pain and heat decreased.
  • At the cellular level, it appears that there is not a decrease in the amount of enzyme produced, but in the enzyme activity. The activity is only about 25% of what it should be.
  • One theory is that the enzyme is defective produce an overabundance of the normal enzyme, as well as mice that had the HSN-1 gene and produce an overabundance of the possibly defective enzyme. When the two different kinds of mice were bred together, the offspring did not have the neurological symptoms. This discovery presents a new set of questions about the exact mechanism and possible treatment of HSN1. The group discussed many ideas about what direction new research should take.
  • There may be faulty linkage of the two parts of the enzyme
  • There are several steps from the encoding of the enzyme to the production of sphingolipids to the creation of ceramide (important in cellular function) that can be investigated.
  • Potential treatment, such as supplementation with a food or a drug that could promote the production of ceramide might be tried.

The Day Lab continues to breed new mice for ongoing research The Day Lab team will seek to renew the NIH grant as well as a grant through the Neuropathy Association.

The Deater Foundation presented a check for $10,000 to the Day Lab to convene a conference of experts in the various aspects of the research involved. Dr. Brown said such a conference would be “the most constructive use of resources at this time.” It is anticipated that the conference will take place sometime close to the end of 2007, after Dr. Eichler reports on his current research and allowing time for the invited researchers to plan their schedules.

This planned conference is an exciting prospect, and fills us with much hope for an eventual treatment or cure for the disease that has afflicted our family for 7 generations.