Concerted evolution in the GAPDH family of retrotransposed pseudogenes.

International audienceIn murine rodents the glyceraldehyde 3-phosphate dehydrogenase (GAPDH) multigene family includes more than 300 retroprocessed pseudogenes. Its single functional gene encodes GAPDH, an enzyme of glycolysis. Because of its manageable size, this family is a good model for the study of genome cohesion and evolution. By sequence comparison of several GAPDH pseudogenes in Rattus norvegicus and Mus musculus, we have obtained evidence that (i) the GAPDH family still generates new pseudogenes; we note in each species the beginning of a process of species-specific evolution since the pseudogenes of one genus on average cluster more with one another than they do with those of the other genus, and (ii) the GAPDH family contains diversified subfamilies. These findings suggest a certain level of transcription and transposition of the pseudogenes independent of the functional gene which may result from various mechanisms. The homogenization we observe may be due to the pseudogenes themselves (concerted evolution in a strict sense), which explains the occurrence of long-term homogenization of old sequences and subfamily groupings

A medical consideration for sickle cell trait carriers in sports: example of Guadeloupe

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Rheology of red blood cells in patients with HbC disease

International audiencePatients with hemoglobin C disease (CC) usually do not develop severe complications in comparison with individuals with sickle cell anemia (SS) or with sickle cell hemoglobin C disease (SC). The present study compared the hematological, biochemical, hemorheological and clinical characteristics of CC patients to those of SS, SC and healthy individuals (AA). Blood viscosity was measured at 225 s(-1) with a cone plate viscometer. The hematocrit-to-blood viscosity ratio (HVR), i.e. an index of red blood cell (RBC) oxygen transport effectiveness, was calculated. RBC deformability was determined at 30 Pa by ektacytometry, and RBC aggregation properties by syllectometry. CC and SC had higher blood viscosity and lower HVR than AA. Nevertheless, HVR was higher in CC compared to SS and tended to be higher than in SC. The CC group exhibited very rigid hyperchromic RBC compared to the three other groups. RBC aggregation abnormalities were observed in CC: low RBC aggregation index and high RBC aggregates strength. Despite these hemorheological abnormalities, CC never had hospitalized painful vaso-occlusive crisis or acute chest syndrome. In contrast, all of them had splenomegaly. Of note, 2 out of 7 CC developed retinopathy or otologic disorders. Whether the blood hyperviscosity and decreased RBC deformability are responsible for these complications is unknown. The higher oxygen transport effectiveness (i.e., HVR) of CC compared to SS is probably at the origin of the very low risk of medical complication in this population

NLRP3 inflamasome activation and mitochondrial ros production in platelets of SS and SC patients

International audienc

NLRP3 inflamasome activation and mitochondrial ros production in platelets of SS and SC patients

International audienc

NLRP3 inflamasome activation and mitochondrial ros production in platelets of SS and SC patients

International audienc

Facteurs de risque et intérêt de la surveillance orthopédique sur le devenir de l'ostéonécrose aseptique de la tête fémorale chez les adultes porteurs d'anémie falciforme: Étude de 215 patients contre un groupe témoin

SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Risk factors and impact of orthopaedic monitoring on the outcome of avascular necrosis of the femoral head in adults with sickle cell disease: 215 patients case study with control group.

Sickle cell disease is a public health problem. The WHO has recommended that global management be implemented to reduce mortality and morbidity. Since no comprehensive care programme for bone and joint complications exists, the Caribbean Sickle Cell Disease Center added orthopaedic consultation to screen for and monitor these complications in 1992.Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tSCOPUS: ar.jinfo:eu-repo/semantics/publishe