Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale
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...
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Académie des sciences
2021-11-01
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| Series: | Comptes Rendus. Chimie |
| Subjects: | |
| Online Access: | https://comptes-rendus.academie-sciences.fr/chimie/articles/10.5802/crchim.135/ |
| _version_ | 1827785079321001984 |
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| author | 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 Daudon, Michel |
| author_facet | 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 Daudon, Michel |
| author_sort | Bazin, Dominique |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-11T16:14:06Z |
| format | Article |
| id | doaj.art-4b3277857219474299aea4c192710322 |
| institution | Directory Open Access Journal |
| issn | 1878-1543 |
| language | English |
| last_indexed | 2024-03-11T16:14:06Z |
| publishDate | 2021-11-01 |
| publisher | Académie des sciences |
| record_format | Article |
| series | Comptes Rendus. Chimie |
| spelling | doaj.art-4b3277857219474299aea4c1927103222023-10-24T14:23:18ZengAcadémie des sciencesComptes Rendus. Chimie1878-15432021-11-0125S148950210.5802/crchim.13510.5802/crchim.135Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scaleBazin, Dominique0https://orcid.org/0000-0002-5112-9061Rabant, Marion1https://orcid.org/0000-0001-5696-6478Mathurin, Jérémie2https://orcid.org/0000-0002-6769-6394Petay, Margaux3https://orcid.org/0000-0002-5513-6074Deniset-Besseau, Ariane4https://orcid.org/0000-0002-1923-4988Dazzi, Alexandre5https://orcid.org/0000-0001-5752-8461Su, Yangyang6https://orcid.org/0000-0002-4960-6332Hessou, Etienne P.7https://orcid.org/0000-0001-8184-2549Tielens, Frederik8https://orcid.org/0000-0002-6760-6176Borondics, Ferenc9https://orcid.org/0000-0001-9975-4301Livrozet, Marine10Bouderlique, Elise11https://orcid.org/0000-0002-7269-1424Haymann, Jean-Philippe12https://orcid.org/0000-0002-2756-2287Letavernier, Emmanuel13https://orcid.org/0000-0002-6053-8975Frochot, Vincent14Daudon, Michel15https://orcid.org/0000-0001-9844-9823Institut de Chimie Physique, Université Paris-Saclay, 310, rue Michel Magat, 91400, Orsay, FrancePathology Department, Necker-Enfants Malades Hospital, 75015 Paris, FranceInstitut de Chimie Physique, Université Paris-Saclay, 310, rue Michel Magat, 91400, Orsay, FranceInstitut de Chimie Physique, Université Paris-Saclay, 310, rue Michel Magat, 91400, Orsay, FranceInstitut de Chimie Physique, Université Paris-Saclay, 310, rue Michel Magat, 91400, Orsay, FranceInstitut de Chimie Physique, Université Paris-Saclay, 310, rue Michel Magat, 91400, Orsay, FranceGeneral Chemistry (ALGC) – Materials Modelling Group, Vrije Universiteit Brussel (Free University Brussels-VUB), Pleinlaan 2, 1050 Brussel, BelgiumGeneral Chemistry (ALGC) – Materials Modelling Group, Vrije Universiteit Brussel (Free University Brussels-VUB), Pleinlaan 2, 1050 Brussel, BelgiumGeneral Chemistry (ALGC) – Materials Modelling Group, Vrije Universiteit Brussel (Free University Brussels-VUB), Pleinlaan 2, 1050 Brussel, BelgiumSynchrotron SOLEIL, L’Orme des Merisiers, Saint-Aubin, BP 48, 91192 Gif-sur-Yvette Cedex, FranceINSERM, UMRS 1155, UPMC, Hôpital Tenon, 75970 Paris, France; Service d’Explorations Fonctionnelles, Hôpital Tenon, AP-HP, 4, rue de la Chine, 75970 Paris Cedex 20, FranceINSERM, UMRS 1155, UPMC, Hôpital Tenon, 75970 Paris, France; Service d’Explorations Fonctionnelles, Hôpital Tenon, AP-HP, 4, rue de la Chine, 75970 Paris Cedex 20, FranceINSERM, UMRS 1155, UPMC, Hôpital Tenon, 75970 Paris, France; Service d’Explorations Fonctionnelles, Hôpital Tenon, AP-HP, 4, rue de la Chine, 75970 Paris Cedex 20, FranceINSERM, UMRS 1155, UPMC, Hôpital Tenon, 75970 Paris, France; Service d’Explorations Fonctionnelles, Hôpital Tenon, AP-HP, 4, rue de la Chine, 75970 Paris Cedex 20, FranceINSERM, UMRS 1155, UPMC, Hôpital Tenon, 75970 Paris, France; Service d’Explorations Fonctionnelles, Hôpital Tenon, AP-HP, 4, rue de la Chine, 75970 Paris Cedex 20, FranceINSERM, UMRS 1155, UPMC, Hôpital Tenon, 75970 Paris, France; Service d’Explorations Fonctionnelles, Hôpital Tenon, AP-HP, 4, rue de la Chine, 75970 Paris Cedex 20, FranceMedical 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.https://comptes-rendus.academie-sciences.fr/chimie/articles/10.5802/crchim.135/CystinuriaCystinosisFTIRSEMAFM-IROPTIR |
| spellingShingle | 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 Daudon, Michel 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 Cystinuria Cystinosis FTIR SEM AFM-IR OPTIR |
| title | Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale |
| title_full | Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale |
| title_fullStr | Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale |
| title_full_unstemmed | Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale |
| title_short | Cystinuria and cystinosis are usually related to L-cystine: is this really the case for cystinosis? A physicochemical investigation at micrometre and nanometre scale |
| title_sort | cystinuria and cystinosis are usually related to l cystine is this really the case for cystinosis a physicochemical investigation at micrometre and nanometre scale |
| topic | Cystinuria Cystinosis FTIR SEM AFM-IR OPTIR |
| url | https://comptes-rendus.academie-sciences.fr/chimie/articles/10.5802/crchim.135/ |
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