Leber's Hereditary Optic Neuropathy-Gene Therapy : From Benchtop to Bedside
Joint Authors
Koilkonda, Rajeshwari D.
Guy, John
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-16, 16 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2010-12-26
Country of Publication
Egypt
No. of Pages
16
Main Subjects
Abstract EN
Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disorder caused by point mutations in mitochondrial DNA (mtDNA).
Most cases are due to mutations in genes encoding subunits of the NADH-ubiquinone oxidoreductase that is Complex I of the electron transport chain (ETC).
These mutations are located at nucleotide positions 3460, 11778, or 14484 in the mitochondrial genome.
The disease is characterized by apoplectic, bilateral, and severe visual loss.
While the mutated mtDNA impairs generation of ATP by all mitochondria, there is only a selective loss of retinal ganglion cells and degeneration of optic nerve axons.
Thus, blindness is typically permanent.
Half of the men and 10% of females who harbor the pathogenic mtDNA mutation actually develop the phenotype.
This incomplete penetrance and gender bias is not fully understood.
Additional mitochondrial and/or nuclear genetic factors may modulate the phenotypic expression of LHON.
In a population-based study, the mtDNA background of haplogroup J was associated with an inverse relationship of low-ATP generation and increased production of reactive oxygen species (ROS).
Effective therapy for LHON has been elusive.
In this paper, we describe the findings of pertinent published studies and discuss the controversies of potential strategies to ameliorate the disease.
American Psychological Association (APA)
Koilkonda, Rajeshwari D.& Guy, John. 2010. Leber's Hereditary Optic Neuropathy-Gene Therapy : From Benchtop to Bedside. Journal of Ophthalmology،Vol. 2011, no. 2011, pp.1-16.
https://search.emarefa.net/detail/BIM-452229
Modern Language Association (MLA)
Koilkonda, Rajeshwari D.& Guy, John. Leber's Hereditary Optic Neuropathy-Gene Therapy : From Benchtop to Bedside. Journal of Ophthalmology No. 2011 (2011), pp.1-16.
https://search.emarefa.net/detail/BIM-452229
American Medical Association (AMA)
Koilkonda, Rajeshwari D.& Guy, John. Leber's Hereditary Optic Neuropathy-Gene Therapy : From Benchtop to Bedside. Journal of Ophthalmology. 2010. Vol. 2011, no. 2011, pp.1-16.
https://search.emarefa.net/detail/BIM-452229
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-452229