What is it about?

UCLA researchers used advanced computer tools to examine how electrons and molecules interact in the mutated protein that can lead to sudden and permanent blindness in young adults. Leber's hereditary optic neuropathy (LHON) is a condition where a specific genetic mutation in the mitochondrial DNA can lead to sudden and permanent blindness in both eyes. This mutation affects the proteins responsible for mitochondrial function in key cells of the retina. However, scientists were uncertain about how this mutation causes impairment in mitochondria, which are like tiny power plants in our cells. The investigators discovered that this mutation slows down a crucial process called electron transfer to Coenzyme Q10. This slowdown creates conditions that favor the production of harmful substances called reactive oxygen species, which at a threshold leads to cell death by apoptosis. The production of reactive oxygen species is facilitated by enhancement of quantum tunneling. The findings help shed light on how the genetic mutation disrupts the functioning of mitochondria, setting off a chain reaction that can eventually lead to blindness. This may be the first time that quantum tunneling is connected to human disease.

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Why is it important?

This explains, at the root level, why the mutation leads to reactive oxygen species that, at a threshold level, causes the key retinal cell to undergo apoptosis with resultant blindness


Additionally, we demonstrated that alterations of quantum tunneling can cause human disease.

Alfredo Sadun

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This page is a summary of: Coenzyme Q10 trapping in mitochondrial complex I underlies Leber’s hereditary optic neuropathy, Proceedings of the National Academy of Sciences, September 2023, Proceedings of the National Academy of Sciences,
DOI: 10.1073/pnas.2304884120.
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