title: [Diagnosis of familial amyloid polyneuropathy type I in Argentina].
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.
authors.affiliation: Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Argentina. gperez@qb.fcen.uba.ar
authors.forename: Gladys
authors.initials: G
authors.lastname: Pérez
authors.forename: María Cristina
authors.initials: MC
authors.lastname: Romero
authors.forename: Pedro
authors.initials: P
authors.lastname: Trigo
authors.forename: Javier
authors.initials: J
authors.lastname: Lendoire
authors.forename: Oscar
authors.initials: O
authors.lastname: Imventarza
authors.forename: Alcira
authors.initials: A
authors.lastname: Nesse
mesh_terms: D000293:Adolescent; D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis* / Q000235:genetics; D001118:Argentina; D005260:Female; D006801:Humans; D008297:Male; D008403:Mass Screening; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011174:Portugal / Q000208:ethnology; D011228:Prealbumin / Q000235:genetics*; D055815:Young Adult
chemical_list: D011228:Prealbumin