Published in Cell.
Ataxia telangiectasia (A-T) is a rare disease involving a recessive chromosome. It is characterized by progressive deterioration of the nervous system, and the inability to hold the head, arms and legs in proper position. A-T is caused by defects in an enzyme called ATM, which regulates the body’s ability to repair its DNA. It’s unclear what’s happening at the molecular level.
The investigators wanted to examine the significance of low NAD levels and mitochondrial dysfunction in ATM-deficient mice and worms. Mitochondria are the cells’ engines that power whatever the cells are programmed to do. When they become defective, that’s called mitochondrial dysfunction.
Treatments that replenish NAD within the cells reduced the severity of A-T-related sensory loss (neuropathy). Replenishing NAD+ within the cells also was associated with normalizing neuromuscular function, delaying memory loss and extending the lifespan in both the mice and worms. These treatments also stimulated DNA repair in nerve cells, and improved the overall functional quality of the mitochondria.
This work links two major theories on aging: accumulated DNA damage and mitochondrial dysfunction due to DNA damage within the cells. The work also demonstrates that there are important disease processes connected to the premature aging of A-T, pointing to possible therapeutic interventions.Clicking here will take you outside of AboutNAD.com