coenzyme-q10 and Optic-Atrophy--Hereditary--Leber

To investigate the effect of Wuzi Yanzong Decoction (WYD) in treating Leber hereditary optic neuropathy (LHON).. Thirty patients of LHON up to the requirement were assigned to two groups, the treated group administered with WYD plus coenzyme Q10, and the control group with coenzyme Q10 alone, all for 3 months. Patients' visual acuity, visual field, vision evoked potential (VEP) and their Chinese medicine syndrome were observed before and after treatment.. After treatment, all the above-mentioned indexes were improved to some extents in the treated group, but showed no evident change in the control group excepting visual acuity, comparison between groups showed the differences were significant in all items.. WYD shows certain clinical therapeutic effect for treatment of LHON.

Topics: Adolescent; Adult; Drugs, Chinese Herbal; Evoked Potentials, Visual; Female; Humans; Male; Optic Atrophy, Hereditary, Leber; Phytotherapy; Ubiquinone; Visual Acuity; Young Adult

How does a single amino acid mutation occurring in the blinding disease, Leber's hereditary optic neuropathy (LHON), impair electron shuttling in mitochondria? We investigated changes induced by the m.3460 G>A mutation in mitochondrial protein ND1 using the tools of Molecular Dynamics and Free Energy Perturbation simulations, with the goal of determining the mechanism by which this mutation affects mitochondrial function. A recent analysis suggested that the mutation's replacement of alanine A52 with a threonine perturbs the stability of a region where binding of the electron shuttling protein, Coenzyme Q10, occurs. We found two functionally opposing changes involving the role of Coenzyme Q10. The first showed that quantum electron transfer from the terminal Fe/S complex, N2, to the Coenzyme Q10 headgroup, docked in its binding pocket, is enhanced. However, this positive adjustment is overshadowed by our finding that the mobility of Coenzyme Q10 in its oxidized and reduced states, entering and exiting its binding pocket, is disrupted by the mutation in a manner that leads to conditions promoting the generation of reactive oxygen species. An increase in reactive oxygen species caused by the LHON mutation has been proposed to be responsible for this optic neuropathy.

Topics: Alanine; Electron Transport Complex I; Humans; Optic Atrophy, Hereditary, Leber; Reactive Oxygen Species

Topics: Blindness; Humans; Mitochondria; Optic Atrophy, Hereditary, Leber; Ubiquinone

Topics: Aged; Female; Humans; Intraocular Pressure; Late Onset Disorders; Optic Atrophy, Hereditary, Leber; Pedigree; Tomography, Optical Coherence; Ubiquinone; Vision Disorders; Visual Acuity; Vitamin B 12; Vitamin B 12 Deficiency

In this report, we describe a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy. The family carried a mitochondrial DNA mutation (mtDNA m.14484T>C) associated with spontaneous visual improvement. A 15-year-old boy from this family was diagnosed with Leber's hereditary optic neuropathy 6 months after losing his vision. His vision recovered after 8 months of supportive treatment. His mother, older brother, and two sisters also had the same mutation and had previously experienced vision loss. In this family, there was no male predominance.

Topics: Adolescent; DNA, Mitochondrial; Female; Humans; Male; Optic Atrophy, Hereditary, Leber; Pedigree; Pentoxifylline; Point Mutation; Taiwan; Treatment Outcome; Ubiquinone; Vision, Ocular

Topics: Adult; Antioxidants; Coenzymes; DNA Mutational Analysis; DNA, Mitochondrial; Humans; Male; Optic Atrophy, Hereditary, Leber; Point Mutation; Ubiquinone; Vision Disorders; Visual Acuity