Hypotrichose mit juveniler Makuladystrophie
HJMD / CDH3
Quelle: Scienedirect
In dieser Publikation, welche aus nur einem Bild besteht ist eine multimodale Bidgebund verwendet worden,
um einen Patienten aus Portugal (unbekannt) abzulichten.
Multimodale Bildgebung kann die Netzhaut in bisher unerreichtem Detail abbilden, und die Analyse dieser Daten ermöglicht nicht nur die Sicherung von Diagnosen, sondern auch deren Präzisierung. Automatische Bildverarbeitung und Auswertung schöpft das volle Potenzial der vorliegenden Daten aus.
Neues aus Japan - ein Geschwisterpaar wurde als erste asiatische Patienten mit HJMD in diesem klinischen Report
publiziert.
zum Artikel (externer Link)
Beschrieben wird der Fall einer männlichen Person mittleren Alters und der Familie mit Kindern.
Unter Publikation hinterlegt (Passwort geschützt - Anfragen per Email).
Direktlink: Hypotrichosis with Juvenile Macular Dystrophy in Saudi Arabia: A Case Report - PubMed (nih.gov)
Neuer Artikel über PTC124 und das Überlesen von Nonsense Mutationen:
externe Quelle:
Translational Read-Through Therapy of RPGR Nonsense Mutations
HJMD Krankheitsbeschreibung der Uniklinik Saarland (externer Link)
Schöne gelungene Krankheitsbeschreibung auf der Webseite der Saarland Unikinik.
Bei den Quellen wurden wir sogar gelistet - das ist sehr schön,
wenn die Seite HJMD dazu beiträgt, solch eine seltene Erkrankung bekannter zu machen.
Deswegen machen wir das hier !
Introduction: Hair follicles are produced in a cyclical manner and the machinery involved in the reproduction of these follicles is present since the fetal stage. Although extensive research has been done on the human hair follicle, very little is known about the importance of adhesion molecules in its development.
Material and methods: We analyzed here, the immunoexpression of beta-1 integrin, p-cadherin, e-cadherin, and beta-catenin in hair follicles from 26 formalin-fixed and paraffin-embedded skin samples from human embryos and fetus between 12-23 weeks of gestational age.
Results: The adhesion molecules beta-1 integrin and e-cadherin/p-cadherin were expressed from 12 weeks and seemed to play a role in regulating epidermis invagination. Beta-catenin immunostaining was negative in all cases; down regulation of this protein may be necessary for fetal hair development and thus facilitating hair follicle down growth.
Discussion/conclusion: Adhesion molecules are essential for hair follicle down growth and proliferation; integrins and cadherins play a major role in this process. More studies are needed to describe hair follicle development.
zum Beitrag (extern)
The identification of genetic defects that underlie inherited retinal diseases (IRDs) paves the way for the development of therapeutic strategies. Nonsense mutations caused approximately 12% of all IRD cases, resulting in a premature termination codon (PTC). Therefore, an approach that targets nonsense mutations could be a promising pharmacogenetic strategy for the treatment of IRDs. Small molecules (translational read-through inducing drugs; TRIDs) have the potential to mediate the read-through of nonsense mutations by inducing expression of the full-length protein. We provide novel data on the read-through efficacy of Ataluren on a nonsense mutation in the Usher syndrome gene USH2A that causes deaf-blindness in humans. We demonstrate Ataluren´s efficacy in both transiently USH2AG3142*-transfected HEK293T cells and patient-derived fibroblasts by restoring USH2A protein expression. Furthermore, we observed enhanced ciliogenesis in patient-derived fibroblasts after treatment with TRIDs, thereby restoring a phenotype that is similar to that found in healthy donors. In light of recent findings, we validated Ataluren´s efficacy to induce read-through on a nonsense mutation in USH2A-related IRD. In line with published data, our findings support the use of patient-derived fibroblasts as a platform for the validation of preclinical therapies. The excellent biocompatibility combined with sustained read-through efficacy makes Ataluren an ideal TRID for treating nonsense mutations based IRDs.
zum Beitrag (extern)
The photoreceptors of the retina are afflicted by diseases that still often lack satisfactory treatment options. Although suitable drugs might be available in some cases, the delivery of these compounds into the eye and across the blood–retinal barrier remains a significant challenge for therapy development. Here, we review the routes of drug administration to the retina and highlight different options for drug delivery to the photoreceptor cells.