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Molecular Basis of Sensory Transduction in Health and Disease 2.0

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Biology".

Deadline for manuscript submissions: closed (31 January 2023) | Viewed by 5491

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Special Issue Editors

Prof. Dr. Pere Garriga

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Grup de Biotecnologia Molecular i Industrial, Centre de Biotecnologia Molecular, Departament d’Enginyeria Química, Universitat Politècnica de Catalunya-Barcelona Tech, Edifici Gaia, Rambla de Sant Nebridi 22, 08222 Terrassa, Spain
Interests: G protein-coupled receptors; retinal proteins; rhodopsin; membrane proteins; signal transduction
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Prof. Dr. Daniele Dell’Orco

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Department of Neurosciences, Biomedicine and Movement Sciences, Section of Biological Chemistry, University of Verona, Strada le Grazie 8, 37134 Verona, Italy
Interests: phototransduction; calcium sensing; molecular basis of hearing; inherited retinal degeneration; molecular dynamics; computational biology
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Most animals use five senses (vision, hearing, taste, olfaction, and somatosensation) to experience the abundance of stimuli offered by the surrounding environment. Sensory transduction is the process by which physically and chemically heterogeneous stimuli are efficiently converted into an electrical signal that can be properly conveyed and processed by the nervous system. In spite of the variety of specialized sensory cells in different organisms, the molecular components of sensory transduction systems share many common features. The advent of sophisticated sequencing techniques and the increased attention of clinicians to molecular screening have led the discovery of a growing number of mutations in genes encoding fundamental components of sensory transduction pathways, which are often associated with debilitating genetic diseases that affect the senses.

The aim of this Special Issue of IJMS is to collect reviews and original articles on recent investigations of the molecular basis of sensory transduction with particular emphasis on genetic diseases that affect the senses, like inherited retinal degeneration, nonsyndromic hearing loss, and Usher syndrome, as well as genetic alterations of taste and olfaction. All papers, both experimental and theoretical contributions, should highlight the molecular mechanisms at the level of single genes/proteins or their networks. Contributions that detail innovative therapeutic approaches for the treatment of rare sensory diseases are also welcome.

Prof. Dr. Pere Garriga
Prof. Dr. Daniele Dell’Orco
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Related Special Issue

Molecular Basis of Sensory Transduction in Health and Disease in International Journal of Molecular Sciences (10 articles)

Published Papers (4 papers)

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Research

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17 pages, 5356 KiB

Open AccessArticle

An Ex Vivo Electroretinographic Apparatus for the mL-Scale Testing of Drugs to One Day and Beyond

by Lorenzo Cangiano and Sabrina Asteriti

Int. J. Mol. Sci. 2023, 24(14), 11346; https://doi.org/10.3390/ijms241411346 - 12 Jul 2023

Cited by 1 | Viewed by 911

Abstract

When screening new drugs to treat retinal diseases, ex vivo electroretinography (ERG) potentially combines the experimental throughput of its traditional in vivo counterpart, with greater mechanistic insight and reproducible delivery. To date, this technique was used in experiments with open loop superfusion and lasting up to a few hours. Here, we present a compact apparatus that provides continuous and simultaneous recordings of the scotopic a-waves from four mouse retinas for much longer durations. Crucially, each retina can be incubated at 37 °C in only 2 mL of static medium, enabling the testing of very expensive drugs or nano devices. Light sensitivity and response kinetics of these preparations remain in the physiological range throughout incubation, displaying only very slow drifts. As an example application, we showed that barium, a potassium channel blocker used to abolish the glial component of the ERG, displayed no overt side effects on photoreceptors over several hours. In another example, we fully regenerated a partially bleached retina using a minimal quantity of 9-cis-retinal. Finally, we demonstrated that including antibiotic in the incubation medium extends physiological light responses to over one day. This system represents a necessary stepping stone towards the goal of combining ERG recordings with organotypically cultured retinas. Full article

(This article belongs to the Special Issue Molecular Basis of Sensory Transduction in Health and Disease 2.0)

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12 pages, 2514 KiB

Open AccessArticle

Effect of Trace Metal Ions on the Conformational Stability of the Visual Photoreceptor Rhodopsin

by Feifei Wang, Pol Fernandez-Gonzalez, Eva Ramon, Patricia Gomez-Gutierrez, Margarita Morillo and Pere Garriga

Int. J. Mol. Sci. 2023, 24(13), 11231; https://doi.org/10.3390/ijms241311231 - 7 Jul 2023

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Abstract

Trace metals are essential elements that play key roles in a number of biochemical processes governing human visual physiology in health and disease. Several trace metals, such as zinc, have been shown to play important roles in the visual phototransduction process. In spite of this, there has been little research conducted on the direct effect of trace metal elements on the visual photoreceptor rhodopsin. In the current study, we have determined the effect of several metal ions, such as iron, copper, chromium, manganese, and nickel, on the conformational stability of rhodopsin. To this aim, we analyzed, by means of UV-visible and fluorescence spectroscopic methods, the effects of these trace elements on the thermal stability of dark rhodopsin, the stability of its active Metarhodopsin II conformation, and its chromophore regeneration. Our results show that copper prevented rhodopsin regeneration and slowed down the retinal release process after illumination. In turn, Fe³⁺, but not Fe²⁺, increased the thermal stability of the dark inactive conformation of rhodopsin, whereas copper ions markedly decreased it. These findings stress the important role of trace metals in retinal physiology at the photoreceptor level and may be useful for the development of novel therapeutic strategies to treat retinal disease. Full article

(This article belongs to the Special Issue Molecular Basis of Sensory Transduction in Health and Disease 2.0)

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19 pages, 8984 KiB

Open AccessArticle

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

by Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge, Katarina Stingl, Tobias B. Haack, Saskia Biskup, Susanne Kohl, Laura Kühlewein, Daniele Dell’Orco and Nicole Weisschuh

Int. J. Mol. Sci. 2023, 24(3), 2709; https://doi.org/10.3390/ijms24032709 - 31 Jan 2023

Cited by 2 | Viewed by 1550

Abstract

Biallelic pathogenic variants in TULP1 are mostly associated with severe rod-driven inherited retinal degeneration. In this study, we analyzed clinical heterogeneity in 17 patients and characterized the underlying biallelic variants in TULP1. All patients underwent thorough ophthalmological examinations. Minigene assays and structural analyses were performed to assess the consequences of splice variants and missense variants. Three patients were diagnosed with Leber congenital amaurosis, nine with early onset retinitis pigmentosa, two with retinitis pigmentosa with an onset in adulthood, one with cone dystrophy, and two with cone-rod dystrophy. Seventeen different alleles were identified, namely eight missense variants, six nonsense variants, one in-frame deletion variant, and two splice site variants. For the latter two, minigene assays revealed aberrant transcripts containing frameshifts and premature termination codons. Structural analysis and molecular modeling suggested different degrees of structural destabilization for the missense variants. In conclusion, we report the largest cohort of patients with TULP1-associated IRD published to date. Most of the patients exhibited rod-driven disease, yet a fraction of the patients exhibited cone-driven disease. Our data support the hypothesis that TULP1 variants do not fold properly and thus trigger unfolded protein response, resulting in photoreceptor death. Full article

(This article belongs to the Special Issue Molecular Basis of Sensory Transduction in Health and Disease 2.0)

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Review

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10 pages, 2835 KiB

Open AccessReview

Retinal Cyclic Nucleotide-Gated Channel Regulation by Calmodulin

by Aritra Bej and James B. Ames

Int. J. Mol. Sci. 2022, 23(22), 14143; https://doi.org/10.3390/ijms232214143 - 16 Nov 2022

Cited by 2 | Viewed by 1435

Abstract

Retinal cyclic nucleotide-gated (CNG) ion channels bind to intracellular cGMP and mediate visual phototransduction in photoreceptor rod and cone cells. Retinal rod CNG channels form hetero-tetramers comprised of three CNGA1 and one CNGB1 protein subunits. Cone CNG channels are similar tetramers consisting of three CNGA3 and one CNGB3 subunits. Calmodulin (CaM) binds to two distinct sites (CaM1: residues 565–587 and CaM2: residues 1120–1147) within the cytosolic domains of rod CNGB1. The binding of Ca²⁺-bound CaM to CNGB1 promotes the Ca²⁺-induced desensitization of CNG channels in retinal rods that may be important for photoreceptor light adaptation. Mutations that affect Ca²⁺-dependent CNG channel function are responsible for inherited forms of blindness. In this review, we propose structural models of the rod CNG channel bound to CaM that suggest how CaM might cause channel desensitization and how dysregulation of the channel may lead to retinal disease. Full article

(This article belongs to the Special Issue Molecular Basis of Sensory Transduction in Health and Disease 2.0)

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