Danish type gelsolin-related amyloidosis in a Brazilian family: case reports
Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systemic amyloidosis showing marked geographic clustering in Finland. The disease is caused by a point mutation, 654G-A, in the gelsolin gene. The Danish-subtype of FAF has been previously described in three families, the patients present clinical findings similar to FAF, and the mutation 654G-T in the gelsolin gene. Three members from two generations of the same family, with familial amyloidosis, were screened for mutations in the GSN gene. Genomic DNA was extracted from peripheral blood lymphocytes and the polymerase chain reaction (PCR) was carried out under standard conditions, using appropriate primers. Sequence analysis showed the presence of a G to T transition at nucleotide 654 of the gelsolin gene. This is the first report of gelsolin-related familial amyloidosis in a Brazilian family, and the result is particularly significant as this pedigree presents an unusual mutation, described previously in three families, with no known Finnish ancestors (Danish type).
Principais autores: | Solari,Helena Parente, Ventura,Marcelo Palis, Antecka,Emilia, Belfort Junior,Rubens, Burnier Jr,Miguel Noel |
---|---|
Formato: | Digital revista |
Idioma: | English |
Publicado em: |
Conselho Brasileiro de Oftalmologia
2011
|
Acesso em linha: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492011000400012 |
Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|
Registros relacionados
-
Immunohistochemical analysis of retinoblastoma cell phenotype using neuronal and glial cell markers
por: Orellana,María Eugenia, et al.
Publicado em: (2016) -
Association of amyloidosis cutis dyschromica and familial Mediterranean fever
por: Belli,Asli Akin, et al.
Publicado em: (2017) -
The promising role of Gelsolin expression to predict survival in patients with squamous cell carcinoma of the larynx
por: Şahin,Akın, et al.
Publicado em: (2022) -
Gelsolin inhibits autophagy by regulating actin depolymerization in pancreatic ductal epithelial cells in acute pancreatitis
por: Yang,Huiying, et al.
Publicado em: (2023) -
Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)
por: Bouomrani,Salem, et al.
Publicado em: (2021)