Clinical and genetic analysis of essential hypertension with CYB gene m.15024G>A mutation

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Aug 25;52(4):510-517. doi: 10.3724/zdxbyxb-2023-0283. ABSTRACT OBJECTIVES: To explore the role of mitochondrial CYB 15024G>A mutation in the development of essential hypertension. METHODS: Mitochondrial genome sequences of hypertensive patients were obtained from previous studies. Clinical and genetic data of a hypertensive patient with mitochondrial CYB 15024G>A mutation […]

A Method for Real-Time Assessment of Mitochondrial Respiration Using Murine Corneal Biopsy

Invest Ophthalmol Vis Sci. 2023 Aug 1;64(11):33. doi: 10.1167/iovs.64.11.33. ABSTRACT PURPOSE: To develop and optimize a method to monitor real-time mitochondrial function by measuring the oxygen consumption rate (OCR) in murine corneal biopsy punches with a Seahorse extracellular flux analyzer. METHODS: Murine corneal biopsies were obtained using a biopsy punch immediately after euthanasia. The corneal […]

Trimethylated chitosan-coated flexible liposomes with resveratrol for topical drug delivery to reduce blue-light-induced retinal damage

Int J Biol Macromol. 2023 Aug 25:126480. doi: 10.1016/j.ijbiomac.2023.126480. Online ahead of print. ABSTRACT LED-related blue-light-induced damage can cause eye diseases. However, drug delivery in patients with ocular diseases is faced with various challenges. In this study, we developed flexible liposomes based on trimethylated chitosan (TMC-Lipo) to deliver resveratrol for the treatment of retinal diseases. […]

Selenium Protects ARPE-19 and ACBRI 181 Cells against High Glucose-Induced Oxidative Stress

Molecules. 2023 Aug 9;28(16):5961. doi: 10.3390/molecules28165961. ABSTRACT Diabetic retinopathy (DR), a complication of diabetes mellitus (DM), can cause severe visual loss. The retinal pigment epithelium (RPE) plays a crucial role in retinal physiology but is vulnerable to oxidative damage. We investigated the protective effects of selenium (Se) on retinal pigment epithelium (ARPE-19) and primary human […]

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 […]

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 […]

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 […]