Cystinuria and cystinosis are usually related to L-cystine: is this reallythe case for cystinosis? A physicochemical investigation at micrometreand nanometre scale - Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation Accéder directement au contenu
Article Dans Une Revue Comptes Rendus. Chimie Année : 2022

Cystinuria and cystinosis are usually related to L-cystine: is this reallythe case for cystinosis? A physicochemical investigation at micrometreand nanometre scale

Dominique Bazin
Marion Rabant
  • Fonction : Auteur
  • PersonId : 1072355
Jérémie Mathurin
  • Fonction : Auteur
  • PersonId : 1148092
Margaux Petay
Ariane Deniset-Besseau
Alexandre Dazzi
Yangyang Su
Etienne P Hessou
  • Fonction : Auteur
  • PersonId : 1148095
Frederik Tielens
Ferenc Borondics

Résumé

Medical literature indicates clearly that cystinuria and cystinosis, two severe genetic pathologies, are related to the presence of abnormal L-cystine deposits. While L-cystine adopts a hexagonal crystal morphology consistent with its crystallographic structure group), abnormal deposits related to cystinosis display a rectangular shape. Because this is unexpected from the hexagonal crystallographic structure of L-cystine, we have investigated this inconsistency using SEM(scanning electron microscopy) and IR (infrared) spectroscopy at micrometre andnanometre scales. Our data clearly indicate the presence of both L-cysteine and L-cystine. Considering that L-cysteine crystals display a rectangular shape, and that a transition phase between L-cysteine and L-cystine is well known, we propose the following model for deposit evolution in cystinosis. The initial abnormal deposit consists of L-cysteine, with a rectangular crystal morphology. The micrometre scale rectangular crystallite shape is retained after the phase transition equilibrium between Lcysteine and L-cystine is established, with some crystalline L-cysteine still remaining.

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Chimie
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Dates et versions

hal-03718117 , version 1 (08-07-2022)

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Citer

Dominique Bazin, Marion Rabant, Jérémie Mathurin, Margaux Petay, Ariane Deniset-Besseau, et al.. Cystinuria and cystinosis are usually related to L-cystine: is this reallythe case for cystinosis? A physicochemical investigation at micrometreand nanometre scale. Comptes Rendus. Chimie, 2022, 25 (S1), pp.489-502. ⟨10.5802/crchim.135⟩. ⟨hal-03718117⟩
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