Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale - Archive ouverte HAL Access content directly
Journal Articles Comptes Rendus. Chimie Year : 2021

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

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Dominique Bazin
Marion Rabant
  • Function : Author
  • PersonId : 1072355
Jérémie Mathurin
  • Function : Author
  • PersonId : 1148092
Margaux Petay
  • Function : Author
  • PersonId : 1148093
Alexandre Dazzi
Yangyang Su
Etienne P Hessou
  • Function : Author
  • PersonId : 1148095
Frederik Tielens
Ferenc Borondics
  • Function : Author
  • PersonId : 1000043

Abstract

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 and nanometre 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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Dates and versions

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 really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale. Comptes Rendus. Chimie, 2021, ⟨10.5802/crchim.135⟩. ⟨hal-03718117⟩
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