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Research Briefs

	Insight into adult neurological disease found in rare genetic disorder
	Stem cells from bone marrow cannot transform into brain cells
	Early gene therapy study results promising for childhood eye tumor

Insight into adult neurological disease found in rare genetic disorder

A glitch in a gene that is part of the DNA repair system for cells in the brain could provide new insight into how degenerative diseases of the nervous system occur, said researchers at Baylor College of Medicine in an online report posted Sept. 16 in Nature Genetics.

The mutation was in the genetic code for an enzyme important to repairing breaks in cellular DNA - an enzyme so important that its code is found in many different organisms - from yeast to humans. Another laboratory had shown that when the enzyme is mutated, its DNA repair function is affected many thousand fold.

The mutation caused a disease called spinal cerebellar axtaxia and axonal neuropathy (SCAN1) in a large Saudi Arabian family, said James R. Lupski, MD, PhD, professor of molecular and human genetics at Baylor. A Saudi neurologist, who was also a member of the family, contacted Lupski about finding why the neurodegenerative disease was striking so many of his family members.

Studying this rare disease leads to new insights into how individuals might acquire neurological degenerative diseases in their adult years, said Dr. Lupski.

Nature Genetics: Published online 16 September 2002, doi:10.1038/ng987

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Stem cells from bone marrow cannot transform into brain cells

Although previous research has suggested that adult bone marrow stem cells could produce the kinds of cells usually found in the brain, it now appears this is not a common occurrence and may only happen under special experimental conditions, said researchers at Baylor College of Medicine in a report in the Aug. 23 issue of Science.

In an unusual publication of "negative" data, David Shine, PhD, Margaret Goodell, PhD, Raymond Castro, MD, and colleagues described their futile efforts to persuade bone marrow stem cells to produce neural cells, those found in the brain and nervous system. Previous authors had used whole bone marrow.

Dr. Shine, an associate professor in the department of neurosurgery and a member of Baylor's Center for Cell and Gene Therapy, and his team decided to try the experiment with highly purified bone marrow stem cells, called side population or SP cells, but were unable to stimulate the cells to produce neural cells.

Science. 2002 Aug 23;297(5585):1299

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Early gene therapy study results promising for childhood eye tumor

A federally funded study using gene therapy to save the sight of young children with a rare type of eye tumor called retinoblastoma is showing promising results, according to researchers at Texas Children's Cancer Center.

"Although this study is at an early stage, all of the children have shown improvement, though not all have been cured," said Richard Hurwitz, MD, associate professor of pediatrics at Baylor College of Medicine in Houston and the lead investigator of the study. "The results to date show that this approach of gene therapy is safe, can be delivered successfully and is well-tolerated."

Six children have been treated with the new therapy, with an additional six more able to be treated under the study guidelines. "One child in the study received gene therapy 14 months ago and is now tumor-free, with excellent vision," Dr. Hurwitz said. The results have been presented at the Association for Research in Vision and Ophthalmology meetings.

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