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Koppe T.,Federal University of Rio Grande do Sul | Vairo F.,Federal University of Rio Grande do Sul | Camargo M.,Federal University of Rio Grande do Sul | Paskulin L.,Federal University of Rio Grande do Sul | And 3 more authors.
Molecular Genetics and Metabolism Reports | Year: 2015

β2-Microglobulin is the major prognostic factor in multiple myeloma, a known comorbidity of Gaucher disease. We evaluated herein serum β2-microglobulin levels of 31 type 1 Gaucher patients; for 8/31 patients, pre- and post-treatment comparisons were made. Thirteen patients (on treatment = 6) had high levels of β2-microglobulin, and showed higher chitotriosidase activity and Severity Score Index, and lower concentration of platelets, than patients with normal levels. Levels of β2-microglobulin correlated with chitotriosidase activity (ρ = 0.65; p < 0.01), platelets (ρ = - 0.42; p = 0.02) and α1- (ρ = 0.43; p = 0.02) and α2-protein bands (ρ = - 0.40; p = 0.03). Regarding pre- and post-treatment values, median β2-microglobulin levels decreased after treatment (pre- = 2931 ng/mL; post- = 1970 ng/mL; p < 0.01). Our data suggest that levels of serum β2-microglobulin are frequently elevated in type 1 Gaucher patients, correlate with severity of the disease and decrease after treatment. © 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license. Source


Poloni S.,Medical Genetics Service | Poloni S.,Federal University of Rio Grande do Sul | Poloni S.,BRAin Basic Research and Advanced Investigations in Neurosciences Laboratory | Schweigert Perry I.D.,Federal University of Rio Grande do Sul | And 4 more authors.
Clinical Nutrition | Year: 2013

The role of the phase angle in hyperhomocysteinemia has yet to be assessed. Classical homocystinuria is a rare genetic disease characterized by severe hyperhomocysteinemia, as well as increased levels of methionine and reduced levels of cysteine. The objective of this study was to investigate the potential relationship between phase angle and homocysteine, cysteine, and methionine levels in patients with classical homocystinuria. Eight patients were included in the study. Phase angle was measured with a tetrapolar bioimpedance analyzer. Serum homocysteine, cysteine, and methionine levels were measured by HPLC. Only three patients had adequate metabolic control of their disease. Median phase angle was 5.9° (range = 5.4°-8.5°). There was a significant correlation between phase angle and levels of homocysteine (r = -0.807, p = 0.015), methionine (r = -0.711, p = 0.048), and cysteine (r = 0.836, p = 0.010). Was also positively correlated with BMI and arm muscle circumference (p < 0.05). Two patients had phase angles below the 5th percentile, and only one above the 50th percentile. Our findings suggest that cellular integrity is affected in patients with high homocysteine levels, thus indicating that phase angle could be a valuable indicator of prognosis and classical homocystinuria. It also suggests a role for this indicator in other forms of hyperhomocysteinemia and other inborn errors of metabolism. © 2012 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. Source


Alegra T.,Federal University of Rio Grande do Sul | Koppe T.,Federal University of Rio Grande do Sul | Acosta A.,Complexo Hospitalar Universitario Professor Edgard Santos | Acosta A.,Federal University of Bahia | And 15 more authors.
Meta Gene | Year: 2014

Mucolipidosis II alpha/beta is an autosomal recessive disorder caused by deficient activity of GlcNAc-1-phosphotransferase. We report the prenatal diagnosis of a fetus who was found to exhibit normal levels of lysosomal enzymes in the amniotic fluid but low levels in amniocytes, and who was found to be heterozygous for the most common GNPTAB mutation. As in some carriers of Mucolipidosis II biochemical abnormalities may hinder prenatal diagnosis,we suggest DNA analysis should be performed whenever possible. © 2014 The Authors. Source


Sperb-Ludwig F.,BRAin Basic Research and Advanced Investigations in Neurosciences Laboratory | Sperb-Ludwig F.,Federal University of Rio Grande do Sul | Alegra T.,Federal University of Rio Grande do Sul | Velho R.V.,Federal University of Rio Grande do Sul | And 9 more authors.
Molecular Genetics and Metabolism Reports | Year: 2015

Mucolipidosis II and III alpha/beta (ML II/III alpha/beta) are rare autosomal recessive lysosomal storage diseases that are caused by a deficiency of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme responsible for the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. A Brazilian patient suspected of having a very mild ML III was investigated using whole next-generation sequencing (NGS). Two mutations in the GNPTAB gene were detected and confirmed to be in trans status by parental analysis: c.1208T>C (p.Ile403Thr), previously reported as being pathogenic, and the novel mutation c.1723G>A (p.Gly575Arg). This study demonstrates the effectiveness of using whole NGS for the molecular diagnosis of very mild ML III alpha/beta patients. © 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license. Source

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