Research Report

Disease Research Report
Submitted by: Ellen Burns, Medical Liaison

On a rainy Sunday morning in May, Dr. Robert H. Brown Jr. drove north to Kittery Point Maine to have lunch with Larry Deater, Rory Robb, and Barry and Ellen Burns. Dr. Brown is the Director of the Cecil B. Day Neuromuscular Laboratory at Massachusetts General Hospital. Besides catching up on one another’s lives, the meeting was to provide an update on the research being done on HSN-1. Hereditary Sensory Neuropathy Type 1 is the name of the disease that affects many members of the family of Alvin and Ellen Wilson Deater.

Dr. Brown has long been a champion of research on this rare genetic disease. It has been more than twenty years since Dr. Brown met Larry at Massachusetts General Hospital. Through the subsequent years Dr. Brown has met many members of the Deater family and has doggedly pursued the genetic cause of HSN-1. Dr. Brown is an internationally known expert in amyotrophic lateral sclerosis, or Lou Gehrig’s disease. Most of his research focuses on that devastating neurological disease. But he has also dedicated extensive time and resources to the search for a cause and treatment for HSN-1.

Dr. Brown and those who work with him have collaborated with scientists from around the country and the world to unravel the mysteries of this rare disease. This collaboration has led to the rapid duplication of experimental results, very important to the verification of research. This collaboration continues with scientists who have a wide variety of interests.


Last year we reported on the funding of a postdoctoral position for Alex McCampbell to develop transgenic mice. Alex works in Dr. Brown’s lab and has experimented with laboratory mice to alter their genetic makeup to mimic the genetic missense (or error) found in people with HSN-1. He has been successful in producing mice with the altered gene, and the mice have reproduced the mutation in subsequent generations. Dr. McCampbell has shown that mice with the genetic defect develop small nerve fiber disease, as in HSN-1. A paper for publication of these findings is in progress.


Also mentioned last year was the collaborative research project with Dr. Theresa Dunn and colleagues at the Uniformed Services Medical School in Bethesda, Maryland. Dr. Dunn’s expertise is in examining the sub cellular workings of the protein that is altered by the genetic error. The gene codes for serine palmitoyltransferase long-chain base subunit 1 (SPTLC1). Dr. Dunn’s research investigates exactly how the protein functions in the body. An article published in December 2004 suggests where within the cell the action of this subunit may take place. Information obtained at this cellular level will inform exactly what is happening to cause the disease.

Worldwide interest:

Dr. Garth Nicholson is the researcher in Australia, who in 2001 published the article identifying the exact area of the genetic defect. Dr. Bejaoui and Dr. Brown reported the same finding from studies of the Deater family in the same publication (although the exact error in the Deater gene was different from that in the other various families studied.) Dr. Nicholson continues to actively study the disease, publishing in March of 2004 a research paper documenting a 44% reduction of SPT activity in certain blood cells (lymphocytes) from HSN-1 patients. Dr. Nicholson recently visited Dr. Brown in Boston, and they continue to support one another’s work.

Dr. Brown says, “Our goal is to get as many smart people to look at this (disease) from as many angles as possible.”