User talk:Z3332250

From Embryology

Alternate treatment

Iron chelations

Iron chelations potential as treatment for FA is greatly focused. Regarding pathogenesis of FA is due to he mitochondrial accumulation of Iron, causing a usage of cytosolic iron[1].Where most potential chelators are those which specifically target mitochondrial pools of iron[2].There is evidence that due to the fractin deficiency results in FA caused from the depletion of cytosolic iron, it has been suggested therapeutic treatment of iron supplements to replenish cytosolic iron to normal[3].

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Currently For the degenerative congenital disorder Friedreichs Ataxia (FRDA) this is no current treatment to reverse, prevent and delay [5]. However there are various potential treatments which have shown signs of improvement from FRDA, antioxidant and Iron chelation are the leading treatments towards FRDA[6][7][8].

friedreich Ataxia (FA) a progressive neurological congenital disorder[9], wtih no treatment identified only possible pharmaceutics which can reduce the progression of FA however not significantly. Whereas significant treatment poties of FA or reduction in progression are the following:

  • Iron-chelation
    • deferoxamine
  • Antioxidants:
    • Idebenone
    • Coenzyme Q10 and Vitamin E

Antioxidants treatment of FA which have shown most promise is Idebenone and Coenzyme Q10 with Vitamin E. Antioxidants have shown degree of reduction on oxidative stress in mitochondria though are still going through clinical trials[5].Conenzyme Q10 an electron carrier with a reduction of oxidative stress effect from the combination of vitamin E, combination of Q10 and vitamin E displayed a positive effect[10]. Where Q10 and vitamin E conveyed the cardiac and skeletal improvement with the betterment of the mitochondrial synthesis[11].

Idebnone operates with a duel function where reversing redox reactions affecting electron balance in the mitochondria while also supporting mitochondria functions preventing damage[7].

genetic treatment

alternate treatment of FRDA is through histone deacetylase inhibitor (HDACI) which has shown potential as treatment in reversing heterochromatin of genes[12]. HDACI has shown sign of increasing levels of fractin to normal range within the nervous system and the heart, positive effects of fractin levels has given signs of decrease in progression of FRDA. Therapeutic use of HDACI led to the normalization of the genetic expression of FRDA patients from the minute levels of fractin. Clearly from mouse models depict therapeutic effect of HDACI, HDACI is able to cross through the blood brain barrier elevating levels of histone acetylation without having toxic effects upon the brain though has shown no affiliation to fractin levels instead affecting GAA repeat[13].

  1. <pubmed>10805340</pubmed>
  2. <pubmed>20156111</pubmed>
  3. <pubmed>18424449</pubmed>
  4. <pubmed>19283344</pubmed>
  5. 5.0 5.1 <pubmed>19283349</pubmed> Cite error: Invalid <ref> tag; name "PMID:19283349" defined multiple times with different content
  6. <pubmed>19283350</pubmed>
  7. 7.0 7.1 <pubmed>19283347</pubmed>
  8. <pubmed>17968974</pubmed>
  9. <pubmed>19283349</pubmed>
  10. <pubmed>19049556</pubmed>
  11. <pubmed>15824263</pubmed>
  12. <pubmed>16205715</pubmed>
  13. <pubmed>18463734</pubmed>