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
Jérémie Mathurin
Margaux Petay
Alexandre Dazzi
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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hal-03718117 , version 1 (08-07-2022)

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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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