Rescue of the Stargardt Disease Phenotype in Knockout Mice Through Dietary Modulation of the Vitamin A Receptor RBPR2.

Mutations in the gene in Stargardt disease (STGD1) cause enhanced accumulation of cytotoxic lipofuscin, manifesting in RPE atrophy and photoreceptor dysfunction. One component of lipofuscin is the all--retinal derivative, pyridinium bisretinoid A2E. Since ocular A2E biosynthesis relies on all--retinal, which is obtained from circulating all--retinol bound to retinol binding protein 4 (RBP4-ROL), we hypothesized that modulating vitamin A receptors, such as RBPR2, which regulate serum RBP4-ROL homeostasis, should in principle attenuate A2E production.

Rescue of the Stargardt Disease phenotype in knockout mice through dietary modulation of the vitamin A receptor RBPR2.

Mutations in the gene in Stargardt disease (STGD1) causes accumulation of cytotoxic lipofuscin, resulting in RPE atrophy and photoreceptor dysfunction. One component of lipofuscin is the all- -retinal derivative, bisretinoid retinylidene- retinylethanolamine (A2E). Since ocular A2E biosynthesis relies on circulating all- -retinol bound to retinol binding protein 4 (RBP4-ROL), we hypothesized that modulating vitamin A receptors, such as the retinol binding protein receptor 2, RBPR2, which regulate serum RBP4-ROL concentration, should attenuate A2E production.

The Allosteric Inhibitor Pentachloropseudilin Inhibits Myosin 1C ATPase Activity and Recapitulates Retinitis Pigmentosa Phenotypes in Mice.

Unconventional myosins are molecular motors that move along actin filaments in an ATPase-dependent manner, thereby influencing intracellular cargo transport. Dysfunction of myosins due to loss-of-function mutations causes human disease phenotypes such as deafness, retinitis pigmentosa, renal failure, and hypertrophic cardiomyopathy. However, some genetic models lacking unconventional myosins do not recapitulate the retinal phenotypes observed in humans, necessitating alternative approaches.

Factors associated with nonuse of helmet among motorcyclists sustaining road traffic accidents.

Background: Road traffic accidents (RTAs) remain a prominent cause of mortality and morbidity worldwide. Wearing a helmet while riding a motorbike can significantly minimize injury severity and fatality. This study aimed to identify the factors associated with the use and nonuse of helmets among motorized two-wheelers.

Loss of the vitamin A receptor RBPR2 in mice disrupts whole-body retinoid homeostasis and the quantitative balance regulating retinylidene protein synthesis.

The distribution of stored dietary vitamin A/all-trans-retinol (ROL) from the liver throughout the body is critical for maintaining retinoid function in peripheral tissues and for generating visual pigments for photoreceptor cell function. ROL circulates in the blood bound to the retinol binding protein 4 (RBP4) as RBP4-ROL. Two membrane receptors, RBPR2 in the liver and other non-ocular tissues, and STRA6 in the eye are proposed to bind circulatory RBP4 and this mechanism facilitates the internalization of ROL.