Abstract:
Familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disease, characterized by systemic deposition of amyloid fibrils in various tissues, especially in peripheral nerves, being a variant of transthyretin (TTR) the principal component of amyloid fibrils. TTR is a normal plasma protein (previously called prealbumin) that functions as a transport protein binding tiroxine and retinol. Among many mutations that have been found in the TTR gene, the variant with a single amino acid substitution of methionine for valine at position 30 (TTR Val30Met) is the responsible of the Portuguese-type Familial Amyloidotic Polyneuropathy (FAP Type I). Interest in this pathology has arisen in Argentina because of the finding of an endemic area where a group of Portuguese immigrant families is localized. Since liver transplantation is a widely accepted treatment because it results in the disappearance of variant transthyretin from plasma, an early detection of the altered gene is essential. Thus, the objective of the present work was to optimize a methodology to detect the Val30Met mutation introducing modifications into techniques that were previously developed. The simple method here described is useful to confirm the diagnosis of the potential disease and, therefore, make it possible for patients to gain access to early liver transplantation.
Registro:
Documento: |
Artículo
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Título: | Diagnosis of familial amyloid polyneuropathy type I in Argentina |
Autor: | Pérez, G.; Romero, M.C.; Trigo, P.; Lendoire, J.; Imventarza, O.; Nesse, A. |
Filiación: | Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria 1428 Buenos Aires, Argentina Laboratorio Central y Unidad de Transplante Hepático, Hospital General de Agudos Dr. Cosme Argerich, Buenos Aires, Argentina
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Palabras clave: | Familial amyloidotic polyneuropathy; Transthyretin; TTR Val30Met mutation; amyloid; methionine; prealbumin; retinol; thyroxine; valine; prealbumin; adolescent; adult; amino acid substitution; Argentina; article; autosomal dominant disorder; clinical article; diagnostic procedure; early diagnosis; familial amyloid polyneuropathy; female; gene amplification; gene mutation; human; liver transplantation; male; methodology; peripheral nerve; protein function; ethnology; genetics; mass screening; mutation; polymerase chain reaction; Portugal; restriction fragment length polymorphism; Adolescent; Adult; Amyloid Neuropathies, Familial; Argentina; Female; Humans; Male; Mass Screening; Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Portugal; Prealbumin; Young Adult |
Año: | 2008
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Volumen: | 68
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Número: | 4
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Página de inicio: | 273
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Página de fin: | 281
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Título revista: | Medicina
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Título revista abreviado: | Medicina (Argentina)
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ISSN: | 00257680
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CODEN: | MEDCA
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CAS: | amyloid, 11061-24-8; methionine, 59-51-8, 63-68-3, 7005-18-7; retinol, 68-26-8, 82445-97-4; thyroxine, 7488-70-2; valine, 7004-03-7, 72-18-4; Prealbumin
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Registro: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez |
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Citas:
---------- APA ----------
Pérez, G., Romero, M.C., Trigo, P., Lendoire, J., Imventarza, O. & Nesse, A.
(2008)
. Diagnosis of familial amyloid polyneuropathy type I in Argentina . Medicina, 68(4), 273-281.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez [ ]
---------- CHICAGO ----------
Pérez, G., Romero, M.C., Trigo, P., Lendoire, J., Imventarza, O., Nesse, A.
"Diagnosis of familial amyloid polyneuropathy type I in Argentina "
. Medicina 68, no. 4
(2008) : 273-281.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez [ ]
---------- MLA ----------
Pérez, G., Romero, M.C., Trigo, P., Lendoire, J., Imventarza, O., Nesse, A.
"Diagnosis of familial amyloid polyneuropathy type I in Argentina "
. Medicina, vol. 68, no. 4, 2008, pp. 273-281.
Recuperado de https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez [ ]
---------- VANCOUVER ----------
Pérez, G., Romero, M.C., Trigo, P., Lendoire, J., Imventarza, O., Nesse, A. Diagnosis of familial amyloid polyneuropathy type I in Argentina . Medicina (Argentina). 2008;68(4):273-281.
Available from: https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez [ ]