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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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 |