Diagnosis of familial amyloid polyneuropathy type I in Argentina

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 pro...

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Autores principales:	Pérez, Gladys Mabel, Nesse, Alcira Beatriz
Publicado:	2008
Materias:	Familial amyloidotic polyneuropathy Transthyretin TTR Val30Met mutation amyloid methionine prealbumin retinol thyroxine valine 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 Female Humans Male Mass Screening Mutation Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Prealbumin Young Adult
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez http://hdl.handle.net/20.500.12110/paper_00257680_v68_n4_p273_Perez
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_00257680_v68_n4_p273_Perez
record_format	dspace
spelling	paper:paper_00257680_v68_n4_p273_Perez2023-06-08T14:53:38Z Diagnosis of familial amyloid polyneuropathy type I in Argentina Pérez, Gladys Mabel Nesse, Alcira Beatriz 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 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. Fil:Pérez, G. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Nesse, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2008 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez http://hdl.handle.net/20.500.12110/paper_00257680_v68_n4_p273_Perez
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	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
spellingShingle	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 Pérez, Gladys Mabel Nesse, Alcira Beatriz Diagnosis of familial amyloid polyneuropathy type I in Argentina
topic_facet	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
description	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.
author	Pérez, Gladys Mabel Nesse, Alcira Beatriz
author_facet	Pérez, Gladys Mabel Nesse, Alcira Beatriz
author_sort	Pérez, Gladys Mabel
title	Diagnosis of familial amyloid polyneuropathy type I in Argentina
title_short	Diagnosis of familial amyloid polyneuropathy type I in Argentina
title_full	Diagnosis of familial amyloid polyneuropathy type I in Argentina
title_fullStr	Diagnosis of familial amyloid polyneuropathy type I in Argentina
title_full_unstemmed	Diagnosis of familial amyloid polyneuropathy type I in Argentina
title_sort	diagnosis of familial amyloid polyneuropathy type i in argentina
publishDate	2008
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00257680_v68_n4_p273_Perez http://hdl.handle.net/20.500.12110/paper_00257680_v68_n4_p273_Perez
work_keys_str_mv	AT perezgladysmabel diagnosisoffamilialamyloidpolyneuropathytypeiinargentina AT nessealcirabeatriz diagnosisoffamilialamyloidpolyneuropathytypeiinargentina
_version_	1768544492579717120

Diagnosis of familial amyloid polyneuropathy type I in Argentina

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