1. Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale
- Author
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Bazin, Dominique, Rabant, Marion, Mathurin, Jérémie, Petay, Margaux, Deniset-Besseau, Ariane, Dazzi, Alexandre, Su, Yangyang, Hessou, Etienne P., Tielens, Frederik, Borondics, Ferenc, Livrozet, Marine, Bouderlique, Elise, Haymann, Jean-Philippe, Letavernier, Emmanuel, Frochot, Vincent, and Daudon, Michel
- Subjects
Cystinuria ,Cystinosis ,FTIR ,SEM ,AFM-IR ,OPTIR ,Biochemistry ,QD415-436 ,Physical and theoretical chemistry ,QD450-801 ,Mathematics ,QA1-939 - 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 (hexagonal, $\mathrm{P}6_{1}22$ space 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 L-cysteine and L-cystine is established, with some crystalline L-cysteine still remaining.
- Published
- 2021
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