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Texto completo SciELO Cuba
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Id: lil-730328
Autor: Pozo Alonso, Albia Josefina; Pozo Lauzán, Desiderio Rafael; Estol de la Guardia, Norka; Menéndez Sainz, Caridad.
Título: Enfermedad de Tay-Sachs / Tay-Sachs disease
Fonte: Rev. cuba. pediatr;86(4):529-534, oct.-dic. 2014. ilus.
Idioma: es.
Resumo: La enfermedad de Tay-Sachs es un trastorno neurodegenerativo progresivo de herencia autosómica recesiva. Se debe a la deficiencia de la enzima β-hexosaminidasa A, que provoca una acumulación de gangliósidos GM2 en los lisosomas. Se incluye dentro de las esfingolipidosis. De las esfingolipidosis que presentan mancha rojo cereza en la mácula, la enfermedad de Tay-Sachs es la única en la que no se evidencia hepatoesplenomegalia. La variante más frecuente se inicia en la lactancia. Se presenta un lactante del sexo masculino al que se le realizó el diagnóstico de esta entidad a los 8 meses de edad. A partir de los 4 meses comenzó a presentar una reacción de sobresalto. A los 6 meses comenzó a perder habilidades previamente adquiridas y crisis epilépticas mioclónicas. Se constató una disminución de la actividad específica de la enzima hexosaminidasa A en leucocitos.

Tay-Sachs disease is a progressive autosomal recessive inherited neurodegenerative disorder caused by Beta-hexosaminidase A enzyme deficiency that in turn provokes GM2 ganglioside accumulation in the lysosomes. It is included in the sphyngolipidoses classification. Among the sphyngolipidoses that present with cherry-red spot in the macula, Tay-Sachs disease is the only one that does not show hepatosplenomegaly. The most frequent variant begins at the breast-feeding phase. This report presented a male nursling who was diagnosed with Tay-Sachs disease at the age of 8 months. At 4 months of age, he had begun getting some fright reactions. At 6 months-old, he began losing his previously acquired skills and suffering myoclonic seizures. The cause was the reduced specific activity of the hexosaminidase A enzyme in leukocytes.
Descritores: Doença de Tay-Sachs/complicações
Doença de Tay-Sachs/diagnóstico
Hexosaminidase A
Limites: Humanos
Masculino
Responsável: CU1.1 - Biblioteca Médica Nacional


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Texto completo SciELO Chile
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Id: lil-519085
Autor: Liu, G. Y; Gao, S. Z.
Título: Molecular cloning, sequence identification and tissue expression profile of three novel sheep (Ovis aries) genes - BCKDHA, NAGA and HEXA
Fonte: Biol. Res;42(1):69-77, 2009. ilus, tab.
Idioma: en.
Projeto: National Natural Science Foundation of China; . National Basic Research Program of China.
Resumo: The complete coding sequences of three sheep genes- BCKDHA, NAGA and HEXA were amplified using the reverse transcriptase polymerase chain reaction (RT-PCR), based on the conserved sequence information of the mouse or other mammals. The nucleotide sequences of these three genes revealed that the sheep BCKDHA gene encodes a protein of 313 amino acids which has high homology with the BCKDHA gene that encodes a protein of 447 amino acids that has high homology with the Branched chain keto acid dehydrogenase El, alpha polypeptide (BCKDHA) of five species chimpanzee (93 percent), human (96 percent), crab-eating macaque (93 percent), bovine (98 percent) and mouse (91 percent). The sheep NAGA gene encodes a protein of 411 amino acids that has high homology with the alpha-N-acetylgalactosaminidase (NAGA) of five species human (85 percent), bovine (94 percent), mouse (91 percent), rat (83 percent) and chicken (74 percent). The sheep HEXA gene encodes a protein of 529 amino acids that has high homology with the hexosaminidase A(HEXA) of five species bovine (98 percent), human (84 percent), Bornean orangután (84 percent), rat (80 percent) and mouse (81 percent). Finally these three novel sheep genes were assigned to GenelDs: 100145857, 100145858 and 100145856. The phylogenetic tree analysis revealed that the sheep BCKDHA, NAGA, and HEXA all have closer genetic relationships to the BCKDHA, NAGA, and HEXA of bovine. Tissue expression profile analysis was also carried out and results revealed that sheep BCKDHA, NAGA and HEXA genes were differentially expressed in tissues including muscle, heart, liver, fat, kidney, lung, small and large intestine. Our experiment is the first to establish the primary foundation for further research on these three sheep genes.
Descritores: /genética
ABATTOIRS-METHYL-TEMEFOS-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE)/genética
Clonagem Molecular
Perfilação da Expressão Gênica
Hexosaminidase A/genética
Ovinos/genética
alfa-N-Acetilgalactosaminidase/genética
-/metabolismo
ABATTOIRS-METHYL-TEMEFOS-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE)/metabolismo
Sequência de Bases
Galinhas
Etiquetas de Sequências Expressas
Hexosaminidase A/metabolismo
Macaca fascicularis
Pan troglodytes
Filogenia
Reação em Cadeia da Polimerase Via Transcriptase Reversa
Análise de Sequência de RNA
Distribuição Tecidual
alfa-N-Acetilgalactosaminidase/metabolismo
Limites: Animais
Bovinos
Humanos
Camundongos
Ratos
Tipo de Publ: Research Support, Non-U.S. Gov't
Responsável: BR1.1 - BIREME



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