Monday, September 30, 2024

NOVEL NDI1 GENE THERAPY

 


Several factors cause glaucoma, some working together in an individual. An emerging concept in the development of this disease is mitochondrial dysfunction and oxidative stress in the retinal ganglion cells (RGC), trabecular meshwork, and the lamina cribrosa (LC) in the optic nerve head.

Sophia Millington-Ward et al, have reported a study to assess the effectivity of an enhanced NDI1 gene (eNdi1) as a gene-independent gene therapy for glaucoma. The therapy is aimed at improving mitochondrial function and decreasing reactive oxygen species (ROS) in a variety of glaucoma models.




The study involved H2O2-insulted primary porcine LC cells (pLC cells). The control cells received eNdi1 constructs delivered via adeno-associated viral vectors (AAV-eNdi1).

H2O2 insult significantly reduced basal oxygen consumption rate (OCR) levels (70.6 ± 37.3% versus 100.0 ± 50.2%), maximal OCR levels (82.7 ± 23.3% versus 118.2 ± 28.3%), and ATP production (48.6 ± 32.4% versus 71.8 ± 37.7%), indicating that oxidative stress significantly reduces mitochondrial function in H2O2-insulted pLC cells.

Conversely, the basal OCR, maximal OCR, and ATP production levels were significantly higher in H2O2-insulted cells that had received AAV eNdi1 (123.9 ± 39.4%, 137.5 ± 32.3%, and 81.5 ± 28.1%, respectively), indicating rescue of mitochondrial function in the model.

 AAV-eNdi1-treated eyes displayed significantly improved photonegative responses compared to control PBS-injected eyes (6.4 ± 3.3 µV and 5.0 ± 3.1 µV, respectively, p < 0.05, paired t-test; n = 25).

eNdi1 directly increases mitochondrial function in cell models of glaucoma. Additionally, the study showed that ROS and mitochondrial stress were reduced, while cellular health was improved.

Therefore, directly increasing mitochondrial function is protective against the development of glaucoma and provides significant benefits.

REFERENCE:

Millington-Ward S, Palfi A, Shortall C, Finnegan LK, Bargroff E, Post IJM, Maguire J, Irnaten M, O Brien C, Kenna PF, Chadderton N, Farrar GJ. AAV-NDI1 Therapy Provides Significant Benefit to Murine and Cellular Models of Glaucoma. Int J Mol Sci. 2024 Aug 15;25(16):8876. doi: 10.3390/ijms25168876. PMID: 39201561; PMCID: PMC11354491.

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