Investigators at University of Bologna have published new data on neuropathy cell biology
2007 APR 2 -- Scientists discuss in "Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy" new findings in neuropathy. "Leber hereditary optic neuropathy (LHON) is a maternally inherited loss of central vision related to pathogenic mutations in the mitochondrial genome, which are a necessary but not sufficient condition to develop the disease. Investigation of precipitating environmental/occupational (and additional genetic) factors could be relevant for prevention," researchers in Bologna, Italy report. "PRESENTATION: After a 6-month period of occupational exposure to n-hexane and other organic solvents, a 27-year-old man (a moderate smoker) developed an optic neuropathy. The patient had a full ophthalmologic and neurologic investigation, including standardized cycloergometer test for serum lactic acid levels and a skeletal muscle biopsy. His exposure history was also detailed, and he underwent genetic testing for LHON mitochondrial DNA mutations. The patient suffered a sequential optic neuropathy with the hallmarks of LHON and tested positive for the homoplasmic 11778G-- >A/ND4 mutation. Routine laboratory monitoring revealed increased concentrations of urinary 2.5 hexandione (n-hexane metabolite) and hippuric acid (toluene metabolite) in the period immediately preceding the visual loss. In a subject carrying an LHON mutation, the strict temporal sequence of prolonged appreciable occupational exposure followed by sudden onset of visual loss must raise a suspicion of causality (with a possible further interaction with tobacco smoke)," wrote V. Carelli and colleagues, University of Bologna. The researchers concluded: "RELEVANCE: In this article, we add to the candidate occupational/environmental triggers of LHON and highlight the need for appropriate case-control (and laboratory) studies to validate the causal effect of mixed toxic exposures." Carelli and colleagues published their study in Environmental Health Perspectives (Grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?. Environmental Health Perspectives, 2007;115(1):113-5). For additional information, contact V. Carelli, Alma Mater Studiorum-University of Bologna, Dipartimento di Scienze Neurologiche, Bologna, Italy. Publisher contact information for the journal Environmental Health Perspectives is: Us Dept. Health Human Sciences Public Health Science, National Institute Health, National Institute Environmental Health Sciences, PO Box 12233, Research Triangle Pk, NC 27709-2233, USA. Keywords: Italy, Bologna, Neuropathy Cell Biology, Cell Biology, Environmental Health, Genetics, Neuropathy, Optic Nerve Disease. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
|
