In a groundbreaking study published in The American Journal of Human Genetics, the research team led by Carlo Rivolta has identified a new gene associated with retinitis pigmentosa, a hereditary form of blindness.
The scientists discovered that mutations in the COQ8B gene can lead to non-syndromic retinitis pigmentosa. This finding is particularly intriguing because COQ8B is known to be involved in the production of coenzyme Q10, a molecule essential for cellular energy production.
“What is fascinating is that until now, COQ8B mutations were primarily associated with kidney disease. Our study reveals that certain mutations in this gene can cause retinal degeneration without affecting the kidneys,” explains Rivolta.
The team identified five individuals from four families who had retinitis pigmentosa caused by different combinations of COQ8B mutations. Using advanced laboratory techniques, they demonstrated how these genetic changes impair the function of the COQ8B protein.
“This study will also help to better understand the significance of COQ8B in the coenzyme Q10 biosynthesis pathway, which is still poorly understood” says Ana Iglesias, lead author of the study.
This discovery does not only expand our understanding of the genetic causes of inherited retinal diseases but also opens up new possibilities for potential treatments. It suggests that supplements of coenzyme Q10 or related compounds could potentially help patients with this specific form of retinitis pigmentosa.
This work underscores the importance of comprehensive genetic testing in diagnosing inherited eye diseases and highlights the complex connections between cellular energy production and retinal health.
Original Publication
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
Ana Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, Marc Folcher, Siying Lin, Gavin Arno, Joaquim Calado, Andrew R. Webster, Alexandre Moulin, Ana Berta Sousa, Luisa Coutinho-Santos, Cristina Santos, Carlo Rivolta
Am J Hum Genet. 2024 Oct 3;111(10):2299-2306.
doi: 10.1016/j.ajhg.2024.08.005. Epub 2024 Sep 2.
