Navegar

Colección

Datos Estadísticas

Artículo

Estamos trabajando para incorporar este artículo al repositorio
Consulte la política de Acceso Abierto del editor

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
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
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
Volumen:68
Número:4
Página de inicio:273
Página de fin:281
Título revista:Medicina
Título revista abreviado:Medicina (Argentina)
ISSN:00257680
CODEN:MEDCA
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
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez

Referencias:

  • Benson, M.D., Uemichi, T., Transthyretin amyloidosis Review (1996) Int J Exp Clin Invest, 3, pp. 44-56
  • Costa, P.P., Figueira, A., Bravo, F., Amyloid fibril protein related to prealbumin familial amyloidotic polyneuropathy (1978) Proc Natl Acad Sci USA, 75, pp. 4499-4503
  • Branch, W.T., Robbins, J., Edelhoch, H., Thyroxine-binding prealbumin (1972) Arch Biochem Biophys, 152, pp. 144-151
  • Kanda, Y., Goodman, D.S., Caufield, R.E., Morgan, F.J., The amino acid sequence of human plasma prealbumin (1974) J Biol Chem, 249, pp. 6796-6805
  • Tsuzuki, T., Mita, S., Maeda, S., Araki, S., Shimada, K., Structure of the human prealbumin gene (1985) J Biol Chem, 260, pp. 12224-12227
  • Strahler, J.R., Rosenblaum, B.B., Hanash, S.M., Identification and characterization of a human transthyretin variant (1987) Biochem Biophys Res Commun, 148, pp. 471-477
  • Fitch, N.J., Akbari, M.T., Ramsden, D.B., An inherited non-amyloidogenic transthyretin variant, [Ser6]-TTR, with increased thyroxine-binding affinity, characterized by DNA sequencing (1991) J Endocrinol, 129, pp. 309-313
  • Ando, Y., Nakamura, M., Araki, S., Transthyretin-related familial amyloidotic polyneuropathy (2005) Arch Neurol, 62, pp. 1057-1062
  • Connors, L.H., Lim, A., Prokaeva, T., Roskens, V.A., Costello, C.E., Tabulation of human transthyretin (TTR) variants (2003) Amyloid, 10, pp. 160-184
  • Tawara, S., Nakazato, M., Kangawa, K., Matsuo, H., Araki, S., Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type) (1983) Biochem Biophys Res Commun, 116, pp. 880-888
  • Ikeda, S.-I., Is familial amyloid polyneuropathy rare? DNA testing is changing the concept of this disease (2007) Neurology, 69, pp. 627-628
  • Lendoire, J., Trigo, P., Aziz, H., Liver transplantation in transthyretin familial amyloid polyneuropathy: First report from Argentina (1999) Amyloid, 6, pp. 297-300
  • Lendoire, J.C., Trigo, P., Aziz, H., Variant transthyretin (TTR) amyloidosis in Argentina. Detection of the trait by electrospray ionization mass spectrometry of lyophilized TTR immunoprecipitate (1999) Scand J Clin Lab Invest, 59, pp. 613-618
  • Andrade, C., A peculiar form of peripheral neuropathy. Familiar atypical generalized amyloidosis with special involvement of peripheral nerves (1952) Brain, 75, pp. 408-427
  • Ikeda, S., Hnayu, N., Hongo, M., Hereditary generalized amyloidosis with polyneuro-pathy. Clinicopathological study of 65 japanese patients (1987) Brain, 110, pp. 315-347
  • Cohen, A.S., Connors, L.H., The pathogenesis and biochemistry of amyloidosis (1987) J Pathol, 151, pp. 1-10
  • Trigo, P., Lendoire, J., Braslasky, G., Hallazgos clinicos en pacientes con Polineuropatía Amiloidótica Familiar tipo I por transtiretina, candidatos a trasplante hepático. (2000) Acta Gastroen-terol Lantinoamer, 30 (SUPL.4), p. 308
  • Lobato, L., Portuguese-type amyloidosis (transthyretin amyloidosis, ATTR V30M). Review (2003) J Nephrol, 16, pp. 438-442
  • Green, N.S., Foss, T.R., Kelly, J.W., Genistein, a natural product from soy, is a potent inhibitor of transthyretin amyloidosis (2005) Proc Natl Acad Sci USA, 102, pp. 14545-14550
  • Holmgren, G., Steen, L., Ekstedt, J., Biochemical effect of liver transplantation in two Swedish patients with familial amyloidotic polyneuropathy (FAP, Met30) (1991) Clin Genet, 40, pp. 242-246
  • Herlenius, G., Wilczek, H.E., Larsson, M., Ericzon, G., Familial Amyloidotic Polyneuropathy World Transplant Registry. Ten years of international experience with liver transplantation for familial amyloidotic polyneuropathy: Results from the familial amyloidotic polyneuropathy world transplant registry (2004) Transplantation, 77, pp. 64-71
  • Soprano, D.R., Herbert, J., Soprano, K.J., Schon, E.A., Goodman, D.S., Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues in the rat (1985) J Biol Chem, 260, pp. 11793-11798
  • Dickson, P.W., Aldred, A.R., Marley, P.D., Guo-Fen, T., Howlett, G.J., Schriber, G., Prelabumin and transferrin mRNA levels in the coroid plexus of rat brain (1985) Biochem Biophys Res Commun, 127, pp. 890-895
  • Lewis, W.D., Skinner, M., Liver transplantation for familial amyloidotic polyneuropathy: A potential curative treatment (1994) Int J Exp Clin Invest, 1, pp. 143-144
  • Amante, M., Trigo, P., Lendoire, J., Imventarza, O., Parisi, C., Transthyretin familial amyloidotic polyneuropathy: Histopathological study of the explanted livers (2003) Ann Hepatol, 2, pp. 171-174
  • Trigo, P., Aziz, H., Braslasky, G., Scazzuso, F., Cueto, G., Lendoire, J., Evolución al año de los pacientes trasplantados per Polineuropatía Amiloidótica Familiar tipo I (PAF I). (1998) Acta Gastroenterol Latinoam, 25 (SUPL. 5), p. 391
  • Date, Y., Nakazato, M., Kangawa, K., Shirieda, K., Fujimoto, T., Matsukura, S., Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues (1997) J Neurol Sci, 150, pp. 143-148
  • Nichols, W.C., Benson, M.D., Hereditary amyloidosis: Detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences (1990) Clin Gen, 37, pp. 44-53
  • Suhr, O., Holmgren, G., Steen, L., Liver transplantation in familial amyloidotic polyneuropathy: Follow up of the first 20 swedish patients (1995) Transplantation, 60, pp. 933-938
  • Al-Soud, W.A., Rådström, P., Purification and characterization of PCR-inhibitory components in blood cells (2001) J Clin Microbiol, 39, pp. 485-493
  • Sambrook, J., Russell, D., Molecular Cloning (2001) A Laboratory Manual, , Cold Spring Harbor Laboratory Press, New York
  • Saraiva, M.J., Costa, P., Birken, S., Goodman, D.S., Presence of an abnormal transthyretin (prealbumin) in Portuguese patients with familial amyloidotic polyneuropathy (1983) Trans Assoc Amer Phys, 96, pp. 261-270
  • López Andreu, F.R., Munar-Qués, M., Parrilla, P., Trasplante hepático para el tratamiento de la polineuropatía amiloidótica familiar tipo I. (1993) Med Clin (Barc), 101, pp. 581-583
  • Ando, Y., Ohlsson, P.-I., Suhr, O., A new simple and rapid screening method for variant transthyretin (TTR) related amyloidosis (1996) Biochem Biophys Res Commun, 228, pp. 480-483
  • Stangou, A.J., Hawkins, P.N., Liver transplantation in transthyretin-related familial amyloid polyneuropathy (2004) Curr Opin Neurol, 17, pp. 615-620
  • Bergen, H.R., Zeldenrust, S.R., Butz, M.L., Identification of transthyretin variants by sequential proteomic and genomic analysis (2004) Clin Chem, 50, pp. 1544-1552
  • Connors, L.H., Ericsson, T., Skare, J., Jones, L.A., Lewis, W.D., Skinner, M., A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing (1998) Biochim Biophys Acta, 1407, pp. 185-192
  • Altland, K., Winter, P., Sauerborn, M.K., Electrically neutral microheterogeneity of human plasma transthyretin (prealbumin) detected by isoelectric focusing in urea gradients (1999) Electrophoresis, 20, pp. 1349-1364
  • Saraiva, M.J., Costa, P.P., Goodman, D.S., Biochemical marker in familial amyloidotic polyneuropathy, Portuguese Type. Familial study on the Transthyretin (Prealbumin)-Methionine-30 Variant (1985) J Clin Invest, 76, pp. 2171-2177
  • Trigo, P., Aziz, H., Lendoire, J., Trasplante hepático en adultos: Casuística del Hospital Dr. Cosine Argerich. (1998) Acta Gastroenterol Latinoam, 25, p. 394

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 [ ]