Kearns-Sayre Syndrome Masquerading as Myasthenia Gravis
Retin Cases Brief Rep. 2022 Dec 22. doi: 10.1097/ICB.0000000000001397. Online ahead of print. ABSTRACT PURPOSE: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion syndrome that is characterized by the triad of onset commonly before age twenty, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here we present a case of KSS masquerading as myasthenia gravis […]
A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX
Ophthalmic Genet. 2023 Feb 2:1-4. doi: 10.1080/13816810.2023.2172190. Online ahead of print. ABSTRACT BACKGROUND: Aicardi syndrome is a neurodevelopmental disorder characterized by a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomonic chorioretinal lacunae. METHODS: Examination, multimodal imaging, and genetic testing were used to guide diagnosis. RESULTS: We report a case […]
Long-term blue light exposure impairs mitochondrial dynamics in the retina in light-induced retinal degeneration in vivo and in vitro
J Photochem Photobiol B. 2023 Mar;240:112654. doi: 10.1016/j.jphotobiol.2023.112654. Epub 2023 Jan 24. ABSTRACT Long-term light exposure, especially in the spectrum of blue light, frequently causes excessive oxidative stress in dry age-related macular degeneration (AMD). Here, to gain insight into the underlying mechanism, we focused on mitochondrial dynamics alterations under long-term exposure to blue light in […]
TiO2nanotubes induce early mitochondrial fission in BMMSCs and promote osseointegration
Biomed Mater. 2023 Feb 8;18(2). doi: 10.1088/1748-605X/acb7bc. ABSTRACT Nanotopography can promote osseointegration, but how bone marrow mesenchymal stem cells (BMMSCs) respond to this physical stimulus is unclear. Here, we found that early exposure of BMMSCs to nanotopography (6 h) caused mitochondrial fission rather than fusion, which was necessary for osseointegration. We analyzed the changes in […]
Early detection of visual impairment in young children using a smartphone-based deep learning system
Nat Med. 2023 Feb;29(2):493-503. doi: 10.1038/s41591-022-02180-9. Epub 2023 Jan 26. ABSTRACT Early detection of visual impairment is crucial but is frequently missed in young children, who are capable of only limited cooperation with standard vision tests. Although certain features of visually impaired children, such as facial appearance and ocular movements, can assist ophthalmic practice, applying […]
PK2/PKRs pathway is involved in the protective effect of artemisinin against trimethyltin chloride-induced hippocampal injury
Toxicology. 2023 Mar 1;486:153432. doi: 10.1016/j.tox.2023.153432. Epub 2023 Jan 22. ABSTRACT Neuroinflammation is one of the important mechanisms of trimethyltin chloride (TMT) central neurotoxicity. Artemisinin (ARS) is a well-known antimalarial drug that also has significant anti-inflammatory effects. Prokineticin 2 (PK2) is a small molecule secreted protein that is widely expressed in the nervous system and […]
Inhibition of mitochondrial VDAC1 oligomerization alleviates apoptosis and necroptosis of retinal neurons following OGD/R injury
Ann Anat. 2023 Jan 20;247:152049. doi: 10.1016/j.aanat.2023.152049. Online ahead of print. ABSTRACT Ischemia-reperfusion (I/R) injury is a common pathological mechanism in many retinal diseases, which can lead to cell death via mitochondrial dysfunction. Voltage-dependent anion channel 1 (VDAC1), which is mainly located in the outer mitochondrial membrane, is the gatekeeper of mitochondria. The permeability of […]
Case Report: Abnormalities of sperm motility and morphology in a patient with Leber hereditary optic neuropathy: Improvement after idebenone therapy
Front Neurol. 2023 Jan 4;13:946559. doi: 10.3389/fneur.2022.946559. eCollection 2022. ABSTRACT CASE: We report the sperm characteristics of a male patient who developed, when he was 18 years old, a Leber hereditary optic neuropathy, a hereditary optic neuropathy due to mtDNA mutation as well as variants in the nuclear DNA. At the age of 30 years-old, […]
The outcome of boosting mitochondrial activity in alcoholic liver disease (ALD) is organ-dependent
Hepatology. 2023 Feb 9. doi: 10.1097/HEP.0000000000000303. Online ahead of print. ABSTRACT OBJECTIVE: Alcoholic liver disease (ALD) accounts for 70% of liver-related deaths in Europe, with no effective approved therapies. Although mitochondrial dysfunction is one of the earliest manifestations of alcohol-induced injury, restoring mitochondrial activity remains a problematic strategy due to oxidative stress. Here, we identify […]
Cone photoreceptors transfer damaged mitochondria to Müller glia
Cell Rep. 2023 Feb 15;42(2):112115. doi: 10.1016/j.celrep.2023.112115. Online ahead of print. ABSTRACT Mitochondria are vital organelles that require sophisticated homeostatic mechanisms for maintenance. Intercellular transfer of damaged mitochondria is a recently identified strategy broadly used to improve cellular health and viability. Here, we investigate mitochondrial homeostasis in the vertebrate cone photoreceptor, the specialized neuron that […]