Metabolic Alterations Caused by Simultaneous Loss of HK2 and PKM2 Leads to Photoreceptor Dysfunction and Degeneration
Cells. 2023 Aug 10;12(16):2043. doi: 10.3390/cells12162043. ABSTRACT HK2 and PKM2 are two main regulators of aerobic glycolysis. Photoreceptors (PRs) use aerobic glycolysis to produce the biomass necessary for the daily renewal of their outer segments. Previous work has shown that HK2 and PKM2 are important for the normal function and long-term survival of PRs but […]
Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
Brain Sci. 2023 Aug 16;13(8):1210. doi: 10.3390/brainsci13081210. ABSTRACT We report a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL), congenital hypothyroidism, cleft mi-tral valve with mild mitral valve regurgitation, and dysmorphic features. Exome analysis first on […]
Lipotoxicity-polarised macrophage-derived exosomes regulate mitochondrial fitness through Miro1-mediated mitophagy inhibition and contribute to type 2 diabetes development in mice
Diabetologia. 2023 Aug 24. doi: 10.1007/s00125-023-05992-7. Online ahead of print. ABSTRACT AIMS/HYPOTHESIS: Insulin resistance is a major pathophysiological defect in type 2 diabetes and obesity. Numerous experimental and clinical studies have provided evidence that sustained lipotoxicity-induced mitophagy deficiency can exacerbate insulin resistance, leading to a vicious cycle between mitophagy dysfunction and insulin resistance, and thereby […]
Diagnostic Yield of Investigations in Symmetric Optic Neuropathy
J Neuroophthalmol. 2023 Aug 24. doi: 10.1097/WNO.0000000000001947. Online ahead of print. ABSTRACT BACKGROUND: Symmetric optic neuropathy (SON) is commonly seen in neuro-ophthalmic practice and is often discovered incidentally. Although multiple investigations might be performed to discover the underlying cause, they are not always indicated. The aim of this study was to report a clinically reasonable […]
Automated Segmentation of Mitochondria in Virus-Infected Cells Using Deep Learning Models
Microsc Microanal. 2023 Jul 22;29(Supplement_1):979-981. doi: 10.1093/micmic/ozad067.490. NO ABSTRACT PMID:37613588 | DOI:10.1093/micmic/ozad067.490
P01-A120 Pre-dissected dmek stored in an active storage machine: feasibility study
BMJ Open Ophthalmol. 2023 Aug;8(Suppl 2):A1. doi: 10.1136/bmjophth-2023-EEBA.1. ABSTRACT PURPOSE: The number of endothelial grafts precut by eye banks increases. Their shelf life is limited to a few days. We previously demonstrated the superiority of an active storage machine (ASM) over organ culture (passive) for whole corneas. AIMS: To measure the endothelial viability of pre-dissected […]
A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas
Ophthalmic Genet. 2023 Aug 21:1-7. doi: 10.1080/13816810.2023.2245464. Online ahead of print. ABSTRACT BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily affects the skin and peripheral nervous system and is caused by chromosomal abnormalities and mostly truncating variants in the NF1 gene. Ocular complications such as Lisch nodules and optic pathway gliomas (OPGs) […]
Dapagliflozin improves diabetic cognitive impairment via indirectly modulating the mitochondria homeostasis of hippocampus in diabetic mice
Biofactors. 2023 Aug 19. doi: 10.1002/biof.1998. Online ahead of print. ABSTRACT Cognitive impairment is increasingly recognized as an important comorbidity of diabetes progression; however, the underlying molecular mechanism is unclear. Dapagliflozin, an inhibitor of sodium-glucose co-transporter 2 (SGLT2), has shown promising effects against diabetes in rodent experiments and human clinical assays. This study aimed to […]
Clinical Reasoning: A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurology. 2023 Aug 18:10.1212/WNL.0000000000207658. doi: 10.1212/WNL.0000000000207658. Online ahead of print. ABSTRACT We present the case of a 48-year-old man who was referred to the movement disorders clinic for 10 years of progressive slurred speech, spasticity, limb incoordination, and wide-based gait. Extensive neurological workup was inconclusive, including serum and CSF testing, neuroimaging, EMG/NCS, exome sequencing, and […]
Impaired Removal of the Damaged Mitochondria in the Metabolic Memory Phenomenon Associated with Continued Progression of Diabetic Retinopathy
Mol Neurobiol. 2023 Aug 18. doi: 10.1007/s12035-023-03534-1. Online ahead of print. ABSTRACT Retinopathy fails to halt even after diabetic patients in poor glycemic control try to institute tight glycemic control, suggesting a “metabolic memory” phenomenon, and the experimental models have demonstrated that mitochondria continue to be damaged/dysfunctional, fueling into the vicious cycle of free radicals. […]