Leber Hereditary Optic Neuropathy


Research from University of Bari reveals new findings on neuropathy cell biology



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This article was published in Pain & Central Nervous System Week, which you can subscribe to online.
2007 MAR 26 -- Data detailed in "The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy" have been presented. According to a study from Bari, Italy, "Over 95% of Leber hereditary optic neuropathy (LHON) cases are due to mutations in mitochondrial DNA-encoded subunits of NADH:ubiquinone oxidoreductase (E.C.1.6.5.3., complex I). A recessive X-linked susceptibility gene that acts synergistically with the primary mtDNA mutation to produce visual loss is suggested by the high male-to-female ratio among LHON patients."

"The ESSS protein is a recently isolated subunit of bovine heart mitochondrial complex I. We revisited the genomic sequence of NDUFB11, the human homolog mapping to chromosome Xp11.23, and identified two mRNA isoforms showing different expression profiles in human tissues. Cultured skin fibroblasts from four LHON patients showed a pattern of expression similar to normal controls. Moreover, NDUFB11 did not seem to influence risk and age at onset of visual loss in a total of 65 individuals from 35 Italian LHON families," wrote V. Petruzzella and colleagues, University of Bari.

The researchers concluded: "Also, the gene was not affected in 11 children with a severe encephalopathy associated with decreased complex I activity in skeletal muscle."

Petruzzella and colleagues published their study in Biochemical and Biophysical Research Communications (The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy. Biochemical and Biophysical Research Communications, 2007;355(1):181-7).

For more information, contact V. Petruzzella, University of Bari, Dept. of Medical Biochemistry, Medical Biology and Medical Physics, Piazza G Cesare 11, 70124 Bari, Italy.

Publisher contact information for the journal Biochemical and Biophysical Research Communications is: Academic Press Inc. Elsevier Science, 525 B St., Ste. 1900, San Diego, CA 92101-4495, USA.

Keywords: Italy, Bari, Neuropathy Cell Biology, Biochemical, Cell Biology, 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.