Caracterização de linhagens de sorgo granífero [Sorghum bicolor (L.) Moench] para tolerância ao alumínio.

Com o avanço do cultivo de sorgo no cerrado brasileiro observa-se a crescente necessidade do estudo e seleção de genótipos mais tolerantes às condições desta região, que se caracteriza por apresentar solos e subsolos com baixo pH e alumínio solúvel em níveis tóxicos. Para tanto, técnicas de melhoramento genético vêm sendo empregadas na tentativa de solucionar ou minimizar os efeitos dessas condições sobre o desenvolvimento das culturas. Este ensaio teve como finalidade caracterizar oito linhagens de sorgo granífero contrastantes para a tolerância ao alumínio tóxico, que foram desenvolvidas para servirem como ferramentas na avaliação de tolerância ao Al no campo. Estas linhagens possibilitarão a criação de híbridos isogênicos com zero, um ou dois alelos para a tolerância ao Al tóxico. A caracterização destas linhagens foi realizada em solução nutritiva na Embrapa Milho e Sorgo, em Sete Lagoas/MG e todas as análises estatísticas foram realizadas utilizando-se o programa Genes

Combining ability of grain sorghum lines selected for aluminum tolerance.

The purpose of this study was to estimate combining ability of 58 sorghum lines previously selected for Aluminum (Al) tolerance. One hundred sixty-five hybrids were evaluated at three levels of Al saturation (0%, 20% and 50%) at the same season. General Combining Ability (GCA) effects were significant for female lines for all three traits. GCA effects for male lines were significant only for plant height. Specific Combining Ability (SCA) effects were significant only for flowering time. The ratio GCA to SCA was greater than the unity, indicating the prevalence of additive effects for the control of Al tolerance. F7, F14, F17, F20, F21, F24, F29, F31, F41, F42, F48, F51, F54 and F55 lines contributed to increase yield, while F29, F48 and F51 also contributed to reduce flowering time. M2 was the best male line since it contributed to increase yield and plant height, and to reduce flowering time

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

[ES] Introducción El síndrome de déficit del transportador de glucosa cerebral (GLUT1DS) puede presentar fenotipos variados, incluyendo epilepsia, déficit intelectual y trastorno del movimiento. La mayoría presenta hipoglucorraquia y/o defectos en el gen SLC2A1, aunque existen pacientes sin hipoglucorraquia y otros con genética de SLC2A1-negativa, o con defectos en otros genes y fenotipo compatible. Objetivos Describir las características clínicas, bioquímicas y genéticas y realizar un análisis univariante de un grupo de pacientes con fenotipo clínico y bioquímico de GLUT1DS, con o sin genética SLC2A1-positiva. Material y métodos Se incluyeron 13 pacientes con criterios clínico-bioquímicos de GLUT1DS. Se realizó secuenciación de SLC2A1 y MLPA. En los casos negativos se realizó exoma clínico. Resultados Seis presentaron fenotipo clásico, 2 discinesia paroxística, 2 trastornos del movimiento complejo, 2 ausencias precoces y otro presentó epilepsia con ausencias infantiles refractaria a farmacoterapia. Seis fueron SLC2A1-positivos. Y en 5 de los SLC2A1-negativos se identificó otro defecto genético. No hubo diferencias significativas entre los dos grupos en edad de inicio, presentación clínica, microcefalia, discapacidad intelectual ni respuesta a dieta cetogénica. De forma no significativa, los pacientes SCL2A1-positivos presentaron más cambios clínicos en relación con la ingesta (66,7% vs. 28,6%) y mayor persistencia de síntomas motores (66% vs. 28,6%). De forma significativa, presentaron menor glucorraquia (34,5 mg/dl vs. 46 mg/dl, p = 0,04) e índice glucorraquia/glucemia más bajo (0,4 vs. 0,48, p = 0,05) que los SLC2A1-negativos. Conclusiones GLUT1DS puede ser causado por defectos genéticos en otros genes diferentes de SLC2A1 en pacientes con fenotipo compatible, hipoglucorraquia y buena respuesta a dieta cetogénica. [EN] Introduction Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. Aims We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. Material and methods The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. Results Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7% vs. 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs. 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs. 46 mg/dL, P = .04) and CSF/serum glucose ratio (0.4 vs. 0.48, P < .05).S

Estudio de pacientes pediátricos con fenotipo clínico y bioquímico de síndrome de déficit de transportador de glucosa cerebral (GLUT-1)

[EN] Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. Aims: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. Material and methods: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. Results: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1 mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients with SLC2A1 mutations presented more clinical changes in relation to diet (66.7%, vs 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs 0.48, P<.05). Conclusions: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet. [ES] Introducción: El síndrome de déficit del transportador de glucosa cerebral (GLUT1DS) puede presentar fenotipos variados, incluyendo epilepsia, déficit intelectual y trastorno del movimiento. La mayoría presentan hipoglucorraquia y/o defectos en el gen SLC2A1, aunque existen pacientes sin hipoglucorraquia y otros con genética de SLC2A1-negativa, o con defectos en otros genes y fenotipo compatible. Objetivos: Describir las características clínicas, bioquímicas y genéticas y realizar un análisis univariante de un grupo de pacientes con fenotipo clínico y bioquímico de GLUT1DS, con o sin genética SLC2A1-positiva. Material y métodos: Se incluyeron 13 pacientes con criterios clínico-bioquímicos de GLUT1DS. Se realizó secuenciación de SLC2A1 y MLPA. En los casos negativos se realizó exoma clínico. Resultados: Seis presentaron fenotipo clásico, 2 discinesia paroxística, 2 trastornos del movimiento complejo, 2 ausencias precoces y otro presentó epilepsia con ausencias infantiles refractaria a farmacoterapia. Seis fueron SLC2A1-positivos. Y en 5 de los SLC2A1-negativos se identificó otro defecto genético. No hubo diferencias significativas entre los dos grupos en edad de inicio, presentación clínica, microcefalia, discapacidad intelectual ni respuesta a dieta cetogénica. De forma no significativa, los pacientes SCL2A1-positivos presentaron más cambios clínicos en relación con la ingesta (66,7% vs. 28,6%) y mayor persistencia de síntomas motores (66% vs. 28,6%). De forma significativa, presentaron menor glucorraquia (34,5 mg/dl vs. 46 mg/dl, p = 0.04) e índice glucorraquia/glucemia más bajo (0,4 vs. 0,48, p = 0,05) que los SLC2A1-negativos. Conclusiones: GLUT1DS puede ser causado por defectos genéticos en otros genes diferentes de SLC2A1 en pacientes con fenotipo compatible, hipoglucorraquia y buena repuesta a dieta cetogénica.‘‘Identification and clinical and biochemical characterisation of patients with GLUT1DS: treatment monitoring.’’ Translational research project 2017, CIBERER. Coordinator: Dr Luis González Gutiérrez-Solana (GCV6). Participating units: U703 (Artuch); U746 (Pérez); GCV5 (Couce); GCV6 (Gutiérrez-Solana); GCV7 (López Laso); GCV8 (del Toro). Research project: hereditary metabolic disorders.S

Selection of sorghum hybrids grown under aluminum saturation.

The purpose of this study was to evaluate 165 hybrids derived from lines previously selected for aluminum (Al) tolerance. Nine check cultivars were used, eight commercial hybrids and one experimental hybrid. Hybrids were evaluated at three levels of Al saturation (0, 20 and 40% on average). The differences between the environments were significant. Environment with 0% Al saturation yielded 29.5% more than that with 40% Al saturation, showing the importance of genotype selection for acid soils. The best check cultivar was the hybrid DKB550. The hybrids AG1020 and AG1040 also performed well, where the latter was more tolerant but the former more responsive to environment improvement. The hybrid BRS304 was susceptible to high levels of Al saturation. The three commercial BRS hybrids (BRS310, BRS330 and BRS332) performed better than BRS304 at high Al saturation. The hybrid BRS330 was the best BRS hybrid to grow on a field with high Al saturation. The hybrid DKB559 performed well at high Al saturation but did not respond to environment improvement. The hybrids 727029, 727039, 729041, 729095, 729109, AG1040, and DKB550 were tolerant to higher levels of Al saturation and responsive to environment improvement, and showed good stability and adaptability at both low and high Al saturation