Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

TL;DR: The hypothesis that axon degeneration is a critical pathological event in glaucomatous neurodegeneration is strongly supported and new therapies are needed to clearly define and order the molecular events that lead from glaucatous insults to axons degeneration.

TL;DR: The LHON genotype influences the recovery of vision and disease onset but is unrelated to age, acuteness of onset, or gender, and the genotype does not influence disease penetrance.

TL;DR: Analysis of biolistically transfected retinal ganglion cells shows the retraction of mitochondria towards the soma, and mitochondrial fragmentation, preceding dendritic loss, which cast light on the intimate relationship between normal mitochondrial fusion and fission balances, as influenced by the OPA1 protein, in neural cell connectivity in the mammalian retina.

TL;DR: The sequence analysis confirms the major role of haplogroups J1c and J2b (over 35% in probands versus 6% in the general population of Western Europe) and other putative synergistic mtDNA variants in LHON expression and indicates that these nine substitutions are all primary LHON mutations.

TL;DR: The complete sequence of the 16,569-base pair human mitochondrial genome is presented and shows extreme economy in that the genes have none or only a few noncoding bases between them, and in many cases the termination codons are not coded in the DNA but are created post-transcriptionally by polyadenylation of the mRNAs.

TL;DR: Glaucoma is the second leading cause of blindness worldwide, disproportionately affecting women and Asians, and it will be 60.5 million people with OAG and ACG in 2010, increasing to 79.6 million by 2020, and of these, 74% will have OAG.

TL;DR: In this article, the prevalence of glaucoma among people worldwide was estimated by using available published data to determine the relation of open angle and angle closure with age in people of European, African, and Asian origin.