בשל "הגנת זכויות יוצרים" מובא להלן קישור לתקציר המאמר. לקריאתו בטקסט מלא, אנא פנה/י לספרייה הרפואית הזמינה לך.

Auditory neuropathy spectrum disorder (ANSD) is a hearing impairment involving disruptions to inner hair cells (IHCs), ribbon synapses, spiral ganglion neurons (SGNs), and/or the auditory nerve itself.

The outcomes of cochlear implants (CI) for ANSD are variable and dependent on the location of lesion sites. Discovering a potential therapeutic agent for ANSD remains an urgent requirement.

Here, 293T stable transfection cell lines and patient induced pluripotent stem cells (iPSCs)-derived auditory neurons carrying the apoptosis inducing factor (AIF) p.R422Q variant were used to pursue a therapeutic regent for ANSD.

 Nicotinamide adenine dinucleotide (NADH) is a main electron donor in the electron transport chain (ETC).

We also compared the therapeutic effects of gene correction and NADH treatment on hereditary ANSD.

NADH treatment had comparable restorative effects on functions of ANSD patient-specific cells to that of gene correction.

Our findings offer evidence of the molecular mechanisms of ANSD and introduce NADH as a potential therapeutic agent for ANSD therapy.