Therapies in inborn errors of oxidative metabolism. Manuel Schiff, Paule Bénit, Howard T. Jacobs, Jerry Vockley and Pierre Rustin. Trends in Endocrinology & Metabolism, 29 May 2012, doi:10.1016/j.tem.2012.04.006.
Keywords: Mitochondrial diseases, mitochondrial dysfunction, 2000 genes, epigenetic and environmental factors, decreased ATP, targets and mechanism of action.
"The manifestations of mitochondrial dysfunction and the response to therapy vary between individuals". This statement by the authors of the paper shows perfectly the great difficulty of the FA's therapeutic approach, and may explain why do not exist two patients who progress in the same way, even siblings.
Wednesday, May 30, 2012
Molecular genetic diagnostics of Friedreich's ataxia. Ten years' experience based on analysis of blood samples.
Molecular genetic diagnostics of Friedreich's ataxia. Ten years' experience based on analysis of blood samples.[Article in Hungarian] Kisfali P, Melegh B. Orv Hetil. 2012 Jun 1;153(22):852-5.
Keywords: frataxin, molecular genetic diagnosis, Friedreich's ataxia, blood
samples.
An Open Label Clinical Pilot Study of Resveratrol as a Treatment for Friedreich Ataxia
An Open Label Clinical Pilot Study of Resveratrol as a Treatment for Friedreich Ataxia 13th Asian Oceanian Congress of Neurology, 4–8 June 2012, Melbourne Convention and Exhibition Centre, Melbourne, Australia
Keywords: Friedreich ataxia (FRDA), mitochondrial protein frataxin, Resveratrol, anti-oxidant, neuroprotective, open-label sequential clinical pilot study, lymphocyte frataxin levels.
Keywords: Friedreich ataxia (FRDA), mitochondrial protein frataxin, Resveratrol, anti-oxidant, neuroprotective, open-label sequential clinical pilot study, lymphocyte frataxin levels.
Neuron Function Restored in Brains Damaged by Huntington's Disease
Neuron Function Restored in Brains Damaged by Huntington's Disease Van Andel Research Institute (2012, May 29). Neuron function restored in brains damaged by Huntington's disease. ScienceDaily. Retrieved
ScienceDaily (May 29, 2012) — Researchers from South Korea, Sweden, and the United States have collaborated on a project to restore neuron function to parts of the brain damaged by Huntington's disease (HD) by successfully transplanting HD-induced pluripotent stem cells into animal models.
It is always good to look the advances in neurodegenerative diseases more frequents than FA, a long way is needed to became a human therapy, but neuroscience and cell biology are progressing rapidly
ScienceDaily (May 29, 2012) — Researchers from South Korea, Sweden, and the United States have collaborated on a project to restore neuron function to parts of the brain damaged by Huntington's disease (HD) by successfully transplanting HD-induced pluripotent stem cells into animal models.
It is always good to look the advances in neurodegenerative diseases more frequents than FA, a long way is needed to became a human therapy, but neuroscience and cell biology are progressing rapidly
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