Rare Diseases News Briefs for Week of February 11, 2001
Pancreatic tumor vaccine in trials; excess iron and movement disorders such as Parkinson's disease, Freidreich's ataxia, and Hallervorden-Spatz disease
Battling Pancreatic Cancer
Science,
February 9, 2001
By Paula A. Kiberstis
Adenocarcinomas of the pancreas are among the deadliest cancers because most are diagnosed at an advanced stage and there are no effective therapies. Jaffee et al. report early but promising results of a phase I trial of a pancreatic tumor vaccine. The vaccine was composed of pancreatic tumor cell lines genetically engineered to secrete granulocyte-macrophage colony-stimulating factor, a cytokine that stimulates the immune system. There were no serious side effects in the 14 patients treated with the vaccine, and three of the patients showed evidence of an immune response to the tumor cells and enjoyed a longer disease-free survival time.
In independent work, Wagner et al. address an important problem that has restricted understanding of the pathogenesis of pancreatic cancer--the absence of an animal model that mimics the human disease. These researchers report that mice that overexpress transforming growth factor-alpha (TGF-a) and are deficient in the tumor suppressor protein p53 rapidly develop pancreatic tumors with histologic and molecular genetic features similar to those seen in human tumors. This new model may facilitate identification of the genetic and environmental forces that drive the growth and metastatic spread of human pancreatic tumors.
http://www.sciencedaily.com/releases/2001/01/010131074233.htm
Mouse With Iron Disorder Offers Clues To Parkinson's,
Similar Diseases
Science Daily, January 31, 2001
Mice engineered to lack a gene involved in iron metabolism may provide important clues for deciphering the nature of a group of brain disorders — similar to Parkinson's Disease — affecting movement, according to a study by researchers at the National Institute of Child Health and Human Development (NICHD). The researchers reported in the February issue of Nature Genetics that mice lacking the gene for iron regulatory protein 2 (IRP2) develop iron deposits in key areas of the brain.
"Researchers have long debated whether the characteristic iron deposits of these diseases are the cause or the result of the disease process," said Duane Alexander, M.D., Director of the NICHD. "This is a strong clue that iron may play a causative role in Parkinson's and similar disorders." Diseases in which excess brain iron has been observed include Parkinson's Disease, Friedreich's Ataxia and Hallervorden-Spatz disease.
In addition, the brain areas affected in the IRP 2 deficient mice correspond closely to those affected in Multiple System Atrophy (formerly known as Olivopontocerebellar Atrophy). For this reason, the NICHD researchers are planning a study to test patients with this disorder for defects of the IRP2 gene.
Currently, Dr. Rouault is seeking patients with Multiple System Atrophy to take part in a genetic study to learn whether they have a genetic defect involving IRP 2. Similarly, she is also seeking patients with Parkinsonian symptoms for the study, because Multiple System Atrophy often masquerades as Parkinson's. Dr. Rouault and her colleagues are especially interested in seeing patients with these diseases who have relatives with either disorder and have high blood levels of ferritin. Those wishing to participate may have their physicians contact Dr. Rouault at Rouault@mail.nih.gov or write her at the Cell Biology and Metabolism Branch, NICHD, Bldg. 18T, Room 101, Bethesda, MD 20892.
Movement Disorders - listings of Web links for information and resources, grouped by disorder
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