The neuro-ophthalmology of mitochondrial disease

JA Fraser, V Biousse, NJ Newman - Survey of ophthalmology, 2010 - Elsevier
Mitochondrial diseases frequently manifest neuro-ophthalmologic symptoms and signs.
Because of the predilection of mitochondrial disorders to involve the optic nerves …

[HTML][HTML] Cause and consequence: mitochondrial dysfunction initiates and propagates neuronal dysfunction, neuronal death and behavioral abnormalities in age …

GE Gibson, A Starkov, JP Blass, RR Ratan… - Biochimica et Biophysica …, 2010 - Elsevier
Age-related neurodegenerative diseases are associated with mild impairment of oxidative
metabolism and accumulation of abnormal proteins. Within the cell, the mitochondria …

Multi-system neurological disease is common in patients with OPA1 mutations

P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco… - Brain, 2010 - academic.oup.com
Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …

[HTML][HTML] Abnormalities in mitochondrial structure in cells from patients with bipolar disorder

AM Cataldo, DL McPhie, NT Lange, S Punzell… - The American journal of …, 2010 - Elsevier
Postmortem, genetic, brain imaging, and peripheral cell studies all support decreased
mitochondrial activity as a factor in the manifestation of Bipolar Disorder (BD). Because …

Mitochondrial fusion proteins: dual regulators of morphology and metabolism

A Zorzano, M Liesa, D Sebastián, J Segalés… - Seminars in cell & …, 2010 - Elsevier
Mitochondria in mammalian cells are visualized as a network or as filaments that undergo
continuous changes in shape and in localization within the cells. These changes are a …

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

D Ghezzi, I Sevrioukova, F Invernizzi, C Lamperti… - The American journal of …, 2010 - cell.com
We investigated two male infant patients who were given a diagnosis of progressive
mitochondrial encephalomyopathy on the basis of clinical, biochemical, and morphological …

Life with or without AIF

E Hangen, K Blomgren, P Bénit, G Kroemer… - Trends in biochemical …, 2010 - cell.com
Apoptosis-inducing factor (AIF) was initially discovered as a caspase-independent death
effector. AIF fulfills its lethal function after its release from mitochondria and its translocation …

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

P Yu-Wai-Man, KS Sitarz, DC Samuels… - Human molecular …, 2010 - academic.oup.com
Pathogenic OPA1 mutations cause autosomal dominant optic atrophy (DOA), a condition
characterized by the preferential loss of retinal ganglion cells and progressive optic nerve …

Redefining the role of mitochondria in exercise: a dynamic remodeling

H Bo, Y Zhang, LL Ji - Annals of the New York Academy of …, 2010 - Wiley Online Library
Exercise induced adaptations in muscle are highly specific and dependent upon the type of
exercise, as well as its frequency, intensity, and duration. Mitochondria are highly dynamic …

OPA1 (dys) functions

T Landes, I Leroy, A Bertholet, A Diot… - Seminars in cell & …, 2010 - Elsevier
Mitochondrial morphology varies according to cell type and cellular context from an
interconnected filamentous network to isolated dots. This morphological plasticity depends …