Studies from University of Maastricht in the area of neuropathy cell biology published
2007 JUL 16 -- Research findings, "A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia," are discussed in a new report. In this recently published article, scientists in Netherlands conducted a study "To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia. Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss." "Of patients with LHON, 95% carry a mutation in 1 of 3 mitochondrial DNA-encoded complex I genes. The complete mitochondrial DNA was screened for mutations in a patient with LHON without 1 of these 3 primary mutations. The heteroplasmy level and biochemical consequence of the mutation were determined. A pathogenic 3697G >A/ND1 mutation was detected and seemed associated with an isolated complex I deficiency. This family has similar clinical characteristics as the previously described families with LHON and dystonia with an ND6 mutation. The 3697G >A/ND1 mitochondrial DNA mutation causes the LHON and spastic dystonia phenotype in the same family," wrote L. Spruijt and colleagues, University of Maastricht. The researchers concluded: "This mutation can also cause MELAS syndrome (which encompasses mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke), and other genetic factors may contribute to the clinical expression." Spruijt and colleagues published their study in Archives of Neurology (A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. Archives of Neurology, 2007;64(6):890-3). For additional information, contact L. Spruijt, University of Maastricht, Dept. of Genetics and Cell Biology, PO Box 616, 6200 MD Maastricht, Netherlands. The publisher's contact information for the journal Archives of Neurology is: American Medical Association, 515 N State St., Chicago, IL 60610, USA. Keywords: Netherlands, Neuropathy Cell Biology, Cell Biology, DNA, Dystonia, Neurology, 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.
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