title: Biochemical and Molecular Chitotriosidase Profiles in Patients with Gaucher Disease Type 1 in Minas Gerais, Brazil: New Mutation in CHIT1 Gene.
abstract: Chitotriosidase (ChT) is a human chitinase secreted by activated macrophages and its activity is used in therapeutic monitoring of Gaucher disease (GD), the most common lysosomal storage disease. About 6% of the population is homozygous for a duplication of 24 bp in exon 11 of the CHIT1 gene (dup24), which is the main polymorphism that results in the absence of ChT. As ChT enzyme activity can be used as a biomarker in GD, it is important to know the CHIT1 genotype of each patient. In this study, ChT activity and CHIT1 genotype were evaluated in 33 GD type 1 patients under treatment in the state of Minas Gerais, Brazil, and compared to healthy controls. As expected, the enzyme activity was found to be higher in GD type 1 patients than in healthy subjects. Four patients had no ChT activity. Their genotype revealed three patients (9%) homozygous for dup24 allele and one patient with two polymorphisms in exon 11: G354R and a 4 bp deletion at the exon-intron 11 boundary (g.16993_16996delGAGT), the later described for the first time in literature. Two other patients with lower ChT activity presented a polymorphism in exon 4 (c.304G>A, p.G102S), without dup24 allele. In conclusion, this study demonstrated that ChT activity can be used for therapeutic monitoring in 82% of GD patients of the state of Minas Gerais, Brazil.
authors: Laboratório de Genética Animal e Humana, Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Talita E R
authors: TER
authors: Adelino
authors: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Gustavo G
authors: GG
authors: Martins
authors: Laboratório de Genética Animal e Humana, Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Aretta A A
authors: AAA
authors: Gomes
authors: Laboratório de Genética Animal e Humana, Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Adriana A
authors: AA
authors: Torres
authors: Laboratório de Genética Animal e Humana, Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Daniel A S
authors: DAS
authors: Silva
authors: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Vinícius D O
authors: VDO
authors: Xavier
authors: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: João Paulo O
authors: JPO
authors: Guimarães
authors: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Sérgio S S
authors: SSS
authors: Araújo
authors: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Rachel A F
authors: RAF
authors: Fernandes
authors: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Maria Christina L A
authors: MCLA
authors: Oliveira
authors: Laboratório de Genética Animal e Humana, Departamento de Biologia Geral, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
authors: Ana Lúcia B
authors: ALB
authors: Godard
authors: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. eugenia@medicina.ufmg.br.|Departamento de Propedêutica Complementar, Universidade Federal de Minas Gerais, Avenida Professor Alfredo Balena190, 31130-100, Belo Horizonte, Minas Gerais, Brazil. eugenia@medicina.ufmg.br.|Departamento de Propedêutica Complementar, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. eugenia@medicina.ufmg.br.
authors: Eugênia R
authors: ER
authors: Valadares