Friedreich's disease 1982: etiologic hypotheses a personal analysis.
The author reviews the arguments for and against the four etiologic hypotheses in Friedreich's disease that have been proposed since 1974: the "pyruvate hypothesis", the "lipid-membrane hypothesis", the "energy-defect hypothesis" and finally the "taurine hypothesis". While none of these hypotheses are mutually exclusive, the author shows that all of these mechanisms play some role in the pathophysiology of the symptoms, but that only the "taurine hypothesis" appears to be compatible with all the known facts and the biochemical abnormalities reported. The author proposed that the taurine retention defect (possibly due to a block in the high affinity-low capacity transport of taurine - The TH System) is a primary event in Friedreich's disease. Whether it is the primary genetic event still has to be determined.
D000596:Amino Acids / Q000097:blood; D003065:Coenzyme A / Q000378:metabolism; D004734:Energy Metabolism; D005227:Fatty Acids / Q000378:metabolism; D005621:Friedreich Ataxia / Q000175:diagnosis / Q000201:enzymology / Q000209:etiology*; D006801:Humans; D007408:Intestinal Absorption; D019787:Linoleic Acid; D008041:Linoleic Acids / Q000172:deficiency; D008563:Membrane Lipids / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism; D011768:Pyruvate Dehydrogenase Complex / Q000378:metabolism; D012106:Research; D013654:Taurine / Q000378:metabolism
D000596:Amino Acids; D005227:Fatty Acids; D008041:Linoleic Acids; D008563:Membrane Lipids; D011768:Pyruvate Dehydrogenase Complex; D013654:Taurine; D019787:Linoleic Acid; D003065:Coenzyme A