Real-time monitoring of mitochondrial oxygenation during machine perfusion using resonance Raman spectroscopy predicts organ function
Res Sq. 2023 Dec 21:rs.3.rs-3740098. doi: 10.21203/rs.3.rs-3740098/v1. Preprint. ABSTRACT Organ transplantation is a life-saving procedure affecting over 100,000 people on the transplant waitlist. Ischemia reperfusion injury is a major challenge in the field as it can cause post-transplantation complications and limits the use of organs from extended criteria donors. Machine perfusion technology is used to […]
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy
J Neuromuscul Dis. 2024 Jan 8. doi: 10.3233/JND-230181. Online ahead of print. ABSTRACT BACKGROUND: The NADH dehydrogenase [ubiquinone] iron-sulfur protein 6 (NDUFS6) gene encodes for an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Bi-allelic NDUFS6 variants have been linked with a severe disorder mostly reported as a lethal infantile mitochondrial […]
Single-Cell Transcriptomic Sequencing Reveals Tissue Architecture and Deciphers Pathological Reprogramming During Retinal Ischemia in Macaca fascicularis
Invest Ophthalmol Vis Sci. 2024 Jan 2;65(1):27. doi: 10.1167/iovs.65.1.27. ABSTRACT PURPOSE: Acute retinal arterial ischemia diseases (ARAIDs) are ocular emergencies that require immediate intervention within a restricted therapeutic window to prevent blindness. However, the underlying molecular mechanisms contributing to the pathogenesis of ARAIDs remain enigmatic. Herein, we present the single-cell RNA sequencing (scRNA-seq) alterations during […]
Ultrasound-enhanced nano catalyst with ferroptosis-apoptosis combined anticancer strategy for metastatic uveal melanoma
Biomaterials. 2023 Dec 30;305:122458. doi: 10.1016/j.biomaterials.2023.122458. Online ahead of print. ABSTRACT Uveal melanoma is the most common primary ocular tumor owing to its highly invasive and metastatic characteristics. Currently, standard clinical treatment has an unsatisfied curative effect due to the lack of an effective approach to inhibit the tumor metastasis. Therefore, it is necessary to […]
Nystagmus in the B6(CG)Tyr(c-2J)/J Albino Mouse: A Functional and RNA-Seq Analysis
Invest Ophthalmol Vis Sci. 2024 Jan 2;65(1):26. doi: 10.1167/iovs.65.1.26. ABSTRACT PURPOSE: Infantile nystagmus syndrome (INS) is a gaze-holding disorder characterized by conjugate, uncontrolled eye oscillations that can result in significant visual acuity loss. INS is often associated with albinism, but the mechanism is unclear. Albino mice have nystagmus; however, a pigmented mouse with a tyr […]
Distinct Metabolic Profiles of Ocular Hypertensives in Response to Hypoxia
Int J Mol Sci. 2023 Dec 22;25(1):195. doi: 10.3390/ijms25010195. ABSTRACT Glaucoma is a neurodegenerative disease that affects the retinal ganglion cells (RGCs). The main risk factor is elevated intraocular pressure (IOP), but the actual cause of the disease remains unknown. Emerging evidence indicates that metabolic dysfunction plays a central role. The aim of the current […]
Lipid Metabolism Regulators Are the Possible Determinant for Characteristics of Myopic Human Scleral Stroma Fibroblasts (HSSFs)
Int J Mol Sci. 2023 Dec 29;25(1):501. doi: 10.3390/ijms25010501. ABSTRACT The purpose of the current investigation was to elucidate what kinds of responsible mechanisms induce elongation of the sclera in myopic eyes. To do this, two-dimensional (2D) cultures of human scleral stromal fibroblasts (HSSFs) obtained from eyes with two different axial length (AL) groups, <26 […]
The Relationship between Complements and Age-Related Macular Degeneration and Its Pathogenesis
J Ophthalmol. 2024 Jan 2;2024:6416773. doi: 10.1155/2024/6416773. eCollection 2024. ABSTRACT Age-related macular degeneration is a retinal disease that causes permanent loss of central vision in people over the age of 65. Its pathogenesis may be related to mitochondrial dysfunction, inflammation, apoptosis, autophagy, complement, intestinal flora, and lipid disorders. In addition, the patient’s genes, age, gender, […]
Butyrate reduction and HDAC4 increase underlie maternal high fructose-induced metabolic dysfunction in hippocampal astrocytes in female rats
J Nutr Biochem. 2024 Jan 8:109571. doi: 10.1016/j.jnutbio.2024.109571. Online ahead of print. ABSTRACT Maternal nutrient intake influences the health of the offspring via microenvironmental systems in digestion and absorption. Maternal high fructose diet (HFD) impairs hippocampus-dependent memory in adult female rat offspring. However, the underlying mechanisms remain largely unclear. Maternal HFD causes microbiota dysbiosis. In […]
Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available
Eur J Neurol. 2024 Feb;31(2):e16138. doi: 10.1111/ene.16138. Epub 2023 Nov 28. ABSTRACT INTRODUCTION: Fatty-acid oxidation disorders (FAODs) are recessive genetic diseases. MATERIALS AND METHODS: We report here clinical and paraclinical data from a retrospective study of 44 adults with muscular FAODs from six French reference centers for neuromuscular or metabolic diseases. RESULTS: The study cohort […]