Insulin-degrading enzyme (IDE) was named after its role as a proteolytic enzyme of insulin. However, recent findings suggest that IDE is a widely expressed, multitask protein, with both proteolytic and non-proteolytic functions. Here, we characterize the expression of IDE in the mammalian retina in both physiological and pathological conditions. We found that IDE was enriched in cone inner segments. IDE levels were downregulated in the dystrophic retina of several mouse models of retinitis pigmentosa carrying distinct mutations. In mice, a commonly studied mouse model of retinitis pigmentosa, treatment with an IDE activator (a synthetic peptide analog of preimplantation factor) delayed loss of visual function and preserved photoreceptor cells. Together, these results point to potential novel roles for IDE in retinal physiology and disease, further extending the list of diverse functions attributed to this enzyme.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9139804 | PMC |
| http://dx.doi.org/10.3390/cells11101621 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
D e h ydro d olichyl d iphosphate s ynthase (DHDDS) is an essential enzyme required for several forms of protein glycosylation in all eukaryotic cells. Surprisingly, three mutant alleles, ( (K42E/K42E), (T206A/K42E), and found in only one patient, (R98W/K42E) have been reported that cause non-syndromic retinitis pigmentosa (RP59), an inherited retinal degeneration (IRD). Because T206A was only observed heterozygously with the K42E allele in RP59 patients, we used CRISPR/CAS9 technology to generate T206A/T206A, and subsequently T206A/K42E alleles in mice to assess the contribution of the T206A allele to the disease phenotype, to model the human disease, and to compare resulting phenotypes to our homozygous K42E mouse model.
View Article and Find Full Text PDF3',4'-Dihydroxy Flavonol (DiOHF) Exerting a Positive Effect on Neurogenesis and Retinal Damage in Experimental Brain Ischemia-Reperfusion of Rats.
Curr Pharm Des
January 2025
Department of Physiology, Medical School, Selcuk University, Konya, Turkey.
Introduction: Brain ischemia-reperfusion can cause serious and irreversible health problems. Recent studies have suggested that certain flavonoids may help stabilize the correctly folded structure of the visual photoreceptor protein rhodopsin and offset the deleterious effect of retinitis pigmentosa mutations.
Objective: The current study aimed to determine the effect of 3',4'-Dihydroxyflavonol (DiOHF) supplementation for 1 week on lipid peroxidation in the retina tissue following focal brain ischemia-reperfusion in rats.
Whole genome sequencing of 10 families with optic disc drusen.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.
Introduction: Optic disc drusen (ODD) are believed to have a genetic predisposition, with autosomal dominant inheritance pattern with incomplete penetrance suggested through family pedigree analysis. ODD prevalence is higher in certain genetic disorders, such as pseudoxanthoma elasticum and retinitis pigmentosa. This study aimed to identify candidate genes potentially involved in the development of ODD.
View Article and Find Full Text PDFRevealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders.
Clin Genet
January 2025
Department of Medical Genetics, Medical Faculty, Aksaray University, Aksaray, Turkiye.
Inherited retinal diseases (IRDs) constitute a heterogeneous group of clinically and genetically diverse conditions, standing as a primary cause of visual impairment among individuals aged 15-45, with an estimated incidence of 1:2000. Our study aimed to comprehensively evaluate the genetic variants underlying IRDs in the Turkish population. This study included 50 unrelated Turkish IRD patients and their families.
View Article and Find Full Text PDF[Not Available].
Klin Monbl Augenheilkd
January 2025
Dpt. of Ophthalmology, University Hospital Basel, Basel, Switzerland.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!