Shikonin protects mitochondria through the NFAT5/AMPK pathway for the treatment of diabetic wounds
World J Diabetes. 2024 Dec 15;15(12):2338-2352. doi: 10.4239/wjd.v15.i12.2338. ABSTRACT BACKGROUND: Shikonin is a natural remedy that is effective at treating diabetic wounds. NFAT5 is a potential therapeutic target for diabetes, and mitochondrial function is essential for wound healing. However, the relationship among Shikonin, NFAT5, and mitochondrial function has not been thoroughly studied. Here, we offer […]
Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population
Genet Med Open. 2023 Nov 11;2:100841. doi: 10.1016/j.gimo.2023.100841. eCollection 2024. ABSTRACT PURPOSE: Ferredoxin reductase (FDXR) is a flavoprotein that functions in both iron sulfur cluster biogenesis and steroid biosynthesis pathways in the mitochondria. Not surprisingly, loss of FDXR function causes severe mitochondrial diseases in humans. Although several FDXR-related mitochondriopathy (FRM) cohorts have been reported in […]
Chloroquine sensitises hypoxic colorectal cancer cells to ROS-mediated cell death via structural disruption of pyruvate dehydrogenase kinase 1
Free Radic Biol Med. 2024 Dec 8:S0891-5849(24)01130-4. doi: 10.1016/j.freeradbiomed.2024.12.026. Online ahead of print. ABSTRACT Chloroquine (CQ), an autophagy antagonist, has been recently explored as a repurposable medicine for cancer; however the exact mechanism of its action is still not known. The present study investigated the effect of CQ on colorectal cancer cells to elucidate the […]
Tumor-Targeted Metal-Organic Framework for Improved Photodynamic Therapy and Inhibited Tumor Metastasis in Melanoma
ACS Appl Mater Interfaces. 2024 Dec 9. doi: 10.1021/acsami.4c18058. Online ahead of print. ABSTRACT Tumor hypoxia and elevated intracellular glutathione (GSH) levels significantly compromise the effectiveness of photodynamic therapy (PDT) in treating melanoma. In this study, we synthesized positively charged nanoparticles through a self-assembly method, incorporating photosensitizer verteporfin (VER), mitochondrial respiratory inhibitor atovaquone (ATO), and […]
Transcriptome combined with Mendelian randomization to screen key genes associated with mitochondrial and programmed cell death causally associated with diabetic retinopathy
Front Endocrinol (Lausanne). 2024 Nov 20;15:1422787. doi: 10.3389/fendo.2024.1422787. eCollection 2024. ABSTRACT BACKGROUND: Mitochondrial dysfunction in the retina can induce apoptosis of retinal capillary cells, leading to diabetic retinopathy (DR). This study aimed to explore key genes related to programmed cell death (PCD) and mitochondria in DR via bioinformatic analysis. METHODS: A differential analysis was performed […]
Dipeptide alanine-glutamine ameliorates retinal neurodegeneration in an STZ-induced rat model
Front Pharmacol. 2024 Nov 19;15:1490443. doi: 10.3389/fphar.2024.1490443. eCollection 2024. ABSTRACT INTRODUCTION: Diabetic retinopathy (DR) is a common complication of diabetes. Retinal neuronal degeneration is an early event in DR, indicated by the declined electroretinogram (ERG). Dipeptide alanine-glutamine (Ala-Gln) is widely used as a nutritional supplement in the clinic and has anti-inflammatory effects on the gastrointestinal […]
OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution
Cell Death Dis. 2024 Nov 30;15(11):870. doi: 10.1038/s41419-024-07165-9. ABSTRACT Optic atrophy protein 1 (OPA1) mediates inner mitochondrial membrane (IMM) fusion and cristae organization. Mutations in OPA1 cause autosomal dominant optic atrophy (ADOA), a leading cause of blindness. Cells from ADOA patients show impaired mitochondrial fusion, cristae structure, bioenergetic function, and mitochondrial DNA (mtDNA) integrity. The […]
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 […]