Antioxidants: alpha-Lipoic acid and N-Acetylcysteine stabilize Fanconi anemia

Fanconi anemia ( FA ) is a rare genetic disorder which affects one person in 350,000. People affected by this disease have defects in DNA repair, and are hypersensitive to oxidative damage, resulting in bone marrow failure and an increased predisposition to cancer.

New research published in the journal Orphanet Journal of Rare Diseases has shown that a combination of the fatty acid alpha-Lipoic acid ( alpha-LA ) and N-Acetylcysteine ( NAC; Acetylcysteine ) can stabilize the DNA of blood cells from Fanconi anemia patients, and drastically reduce its instability.

15 genes are known to be involved in Fanconi anemia. These genes are responsible for repairing DNA and because Fanconi anemia patients do not repair DNA efficiently they are more susceptible to diseases caused by DNA mutation, including cancer, especially leukemia.
Mitochondria, the power houses of the cell, are also affected by Fanconi anemia and consequently patients have an impaired ability to detoxify mutagenic chemicals before they can damage DNA.

Researchers from The University of Porto worked with local hospitals to obtain white blood cells from Fanconi anemia patients.
Pre-treating cells with the antioxidants alpha-LA and Acetylcysteine ( or to a lesser extent alpha-Lipoic acid or Acetylcysteine individually ) significantly reduced the number of spontaneous DNA breaks in blood cells taken from patients with Fanconi anemia and from normal controls.
alpha-LA is essential for metabolism and NAC breaks disulfide bonds and consequently is used in treating Paracetamol overdose to prevent liver damage. In fact, a cocktail of alpha-LA and NAC was able to reduce chromosome instability by at least 60%.

These results have shown that alpha-Lipoic acid plus Acetylcysteine cocktail may be useful to keep chromosome stability in Fanconi anemia patients, which could help block or delay the progression of the disease. This cocktail may be even more effective when applied to FA mosaics and FA chimeras, after bone marrow transplant, as we observed in vitro. ( Xagena )

Source: Orphanet Journal of Rare Diseases, 2012



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