Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
EBioMedicine. 2024 Nov 29;110:105476. doi: 10.1016/j.ebiom.2024.105476. Online ahead of print. ABSTRACT BACKGROUND: Impaired mitochondrial protein import machinery leads to phenotypically heterogeneous diseases. Here, we report a recurrent homozygous missense variant in the gene that encodes the translocase of outer mitochondrial membrane 7 (TOMM7) in nine patients with microcephaly, short stature, facial dysmorphia, atrophic macular scarring, […]
The Ercc1-/Δ mouse model of XFE progeroid syndrome undergoes accelerated retinal degeneration
Aging Cell. 2024 Nov 27:e14419. doi: 10.1111/acel.14419. Online ahead of print. ABSTRACT Age-related macular degeneration (AMD) is a major cause of vision loss in older adults. AMD is caused by degeneration in the macula of the retina. The retina is the highest oxygen consuming tissue in our body and is prone to oxidative damage. DNA […]
A Leaky Deep Intronic Splice Variant in CLRN1 Is Associated with Non-Syndromic Retinitis Pigmentosa
Genes (Basel). 2024 Oct 24;15(11):1363. doi: 10.3390/genes15111363. ABSTRACT BACKGROUND: Inherited retinal diseases (IRDs) are clinically complex and genetically heterogeneous visual impairment disorders with varying penetrance and severity. Disease-causing variants in at least 289 nuclear and mitochondrial genes have been implicated in their pathogenesis. METHODS: Whole exome sequencing results were analyzed using established pipelines and the […]
mTOR Inhibitors Modulate the Biological Nature of TGF-β2-Treated or -Untreated Human Trabecular Meshwork Cells in Different Manners
Biomedicines. 2024 Nov 14;12(11):2604. doi: 10.3390/biomedicines12112604. ABSTRACT Background/Objectives: Mammalian target of rapamycin (mTOR) inhibition may have been suggested to have a beneficial effect on the glaucomatous human trabecular meshwork (HTM). To study the effects of the mTOR inhibitors rapamycin (Rapa) and Torin1 on the glaucomatous HTM, transforming growth factor-β2 (TGF-β2)-treated two-dimensionally (2D) and three-dimensionally (3D) […]
Methylglyoxal: A Key Factor for Diabetic Retinopathy and Its Effects on Retinal Damage
Biomedicines. 2024 Nov 2;12(11):2512. doi: 10.3390/biomedicines12112512. ABSTRACT Background: Diabetic retinopathy is the most common retinal vascular disease, affecting the retina’s blood vessels and causing chronic inflammation, oxidative stress, and, ultimately, vision loss. Diabetes-induced elevated glucose levels increase glycolysis, the main methylglyoxal (MGO) formation pathway. MGO is a highly reactive dicarbonyl and the most rapid glycation […]
Canine Multiple System Degeneration Associated with Sequence Variants in SERAC1
Genes (Basel). 2024 Oct 25;15(11):1378. doi: 10.3390/genes15111378. ABSTRACT Canine multiple system degeneration (CMSD) is an early onset, progressive movement disorder affecting Kerry Blue Terriers and Chinese Crested dogs. The associated pathologic lesions include degeneration of the cerebellum, caudate nucleus, and substantia nigra. CMSD is inherited as an autosomal recessive trait in both dog breeds. Previous […]
FAN1 Deletion Variant in Basenji Dogs with Fanconi Syndrome
Genes (Basel). 2024 Nov 14;15(11):1469. doi: 10.3390/genes15111469. ABSTRACT Background: Fanconi syndrome is a disorder of renal proximal tubule transport characterized by metabolic acidosis, amino aciduria, glucosuria, and phosphaturia. There are acquired and hereditary forms of this disorder. A late-onset form of Fanconi syndrome in Basenjis was first described in 1976 and is now recognized as […]
Ferroptosis in diabetic cardiomyopathy: from its mechanisms to therapeutic strategies
Front Endocrinol (Lausanne). 2024 Nov 11;15:1421838. doi: 10.3389/fendo.2024.1421838. eCollection 2024. ABSTRACT Diabetic cardiomyopathy (DCM) is defined as structural and functional cardiac abnormalities in diabetes, and cardiomyocyte death is the terminal event of DCM. Ferroptosis is iron-dependent oxidative cell death. Evidence has indicated that iron overload and ferroptosis play important roles in the pathogenesis of DCM. […]
Scientific landscape of oxidative stress in sarcopenia: from bibliometric analysis to hotspots review
Front Med (Lausanne). 2024 Nov 11;11:1472413. doi: 10.3389/fmed.2024.1472413. eCollection 2024. ABSTRACT OBJECTIVE: Sarcopenia is a significant healthcare challenge in the aging population. Oxidative stress (OS) is acknowledged to play a pivotal role in the pathological progression of sarcopenia. Numerous studies have demonstrated that mitigating or eliminating OS can ameliorate the pathological manifestations associated with sarcopenia. […]
Ellipsoid Zone Reflectivity: Exploring its Potential as a Novel Non-Invasive Biomarker for Assessing Mitochondrial Function
Neuroophthalmology. 2024 Jun 5;48(6):417-428. doi: 10.1080/01658107.2024.2341769. eCollection 2024. ABSTRACT The ellipsoid zone (EZ) on macular optical coherence tomography (OCT) scans exhibits high intensity due to a high density of light-scattering mitochondria, making its reflectivity a potential marker for mitochondrial function. Here, we developed a reliable analysis tool for extracting relative EZ reflectivity and explore its […]