Optineurin-facilitated axonal mitochondria delivery promotes neuroprotection and axon regeneration.

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Tác giả: Fuyun Bian, Marcus Braun, Chien-Yi Chang, Xin Duan, Xue Feng, Jeffrey Louis Goldberg, Yang Hu, Haoliang Huang, Anna La Torre, Zdenek Lansky, Liang Li, Dong Liu, Liang Liu, Liping Liu, Pingting Liu, Manjari Prakash, Sahil H Shah, Yang Sun, Hannah C Webber, Derek S Welsbie, Yangfan Xu, Hang Yang, Ming Yang, In-Jee You

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Nature communications , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 232065

Optineurin (OPTN) mutations are linked to amyotrophic lateral sclerosis (ALS) and normal tension glaucoma (NTG), but a relevant animal model is lacking, and the molecular mechanisms underlying neurodegeneration are unknown. We find that OPTN C-terminus truncation (OPTN∆C) causes late-onset neurodegeneration of retinal ganglion cells (RGCs), optic nerve (ON), and spinal cord motor neurons, preceded by a decrease of axonal mitochondria in mice. We discover that OPTN directly interacts with both microtubules and the mitochondrial transport complex TRAK1/KIF5B, stabilizing them for proper anterograde axonal mitochondrial transport, in a C-terminus dependent manner. Furthermore, overexpressing OPTN/TRAK1/KIF5B prevents not only OPTN truncation-induced, but also ocular hypertension-induced neurodegeneration, and promotes robust ON regeneration. Therefore, in addition to generating animal models for NTG and ALS, our results establish OPTN as a facilitator of the microtubule-dependent mitochondrial transport necessary for adequate axonal mitochondria delivery, and its loss as the likely molecular mechanism of neurodegeneration.
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