Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy.

Autor: Kubaski F; PPGBM UFRGS Porto Alegre Brazil.; Medical Genetics Service HCPA Porto Alegre Brazil.; INAGEMP Porto Alegre Brazil., Herbst ZM; Department of Chemistry University of Washington Seattle Washington USA., Burin MG; Medical Genetics Service HCPA Porto Alegre Brazil., Michelin-Tirelli K; Medical Genetics Service HCPA Porto Alegre Brazil., Trapp FB; Medical Genetics Service HCPA Porto Alegre Brazil., Gus R; Medical Genetics Service HCPA Porto Alegre Brazil., Netto ABO; PPGBM UFRGS Porto Alegre Brazil.; Medical Genetics Service HCPA Porto Alegre Brazil., Brusius-Facchin AC; Medical Genetics Service HCPA Porto Alegre Brazil., Leistner-Segal S; Medical Genetics Service HCPA Porto Alegre Brazil.; PPGCM UFRGS Porto Alegre Brazil., Sanseverino MT; Medical Genetics Service HCPA Porto Alegre Brazil.; Escola de Medicina PUCRS Porto Alegre Brazil., de Souza CMF; Medical Genetics Service HCPA Porto Alegre Brazil., Wilke MVMB; Medical Genetics Service HCPA Porto Alegre Brazil.; PPGCM UFRGS Porto Alegre Brazil., Oliveira T; Medical Genetics Service HCPA Porto Alegre Brazil., Magalhães JAA; Fetal Medicine Unit HCPA, UFRGS Porto Alegre Brazil., Giugliani R; PPGBM UFRGS Porto Alegre Brazil.; Medical Genetics Service HCPA Porto Alegre Brazil.; INAGEMP Porto Alegre Brazil.; PPGCM UFRGS Porto Alegre Brazil.; Department of Genetics UFRGS Porto Alegre Brazil.
Jazyk: angličtina
Zdroj: JIMD reports [JIMD Rep] 2022 Jan 19; Vol. 63 (2), pp. 162-167. Date of Electronic Publication: 2022 Jan 19 (Print Publication: 2022).
DOI: 10.1002/jmd2.12270
Abstrakt: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by deficiency of arylsulfatase A (ARSA), leading to an accumulation of sulfatides. Sulfatides have been quantified in urine, dried blood spots (DBS), and tissues of patients with MLD. Newborn screening (NBS) for MLD has already been proposed based on a two-tier approach with the quantification of sulfatides in DBS followed by the quantification of ARSA by liquid chromatography-tandem mass spectrometry (LC-MS/MS). Prenatal screening for MLD is also crucial, and sulfatide quantification in amniotic fluid (AF) can aid diagnosis. The prenatal study was initiated due to a family history of MLD at 19 weeks of gestation. ARSA was quantified in cultured amniocytes. C16:0 sulfatide was quantified by LC-MS/MS in the supernatant of AF. Molecular analysis of the ARSA gene was performed in cultured amniocytes. ARSA was deficient in fetal cells, and C16:0 sulfatides were significantly elevated in comparison to age-matched controls (3-fold higher). Genetic studies identified the c.465+1G>A variant in homozygosis in the ARSA gene. Our study shows that sulfatides can be quantified in the supernatant of AF of MLD fetuses, and it could potentially aid in a faster and more accurate diagnosis of MLD patients.
Competing Interests: Francyne Kubaski, Maira Graeff Burin, Kristiane Michelin‐Tirelli, Franciele B. Trapp, Rejane Gus, Alice B. O. Netto, Ana Carolina Brusius‐Facchin, Sandra Leistner‐Segal, Maria Teresa Sanseverino, Carolina Moura Fischinger de Souza, Matheus V. M. B. Wilke, Thiago Oliveira, Jose A. A. Magalhães, Roberto Giugliani declare that they have no conflict of interest. Zackary M. Herbst is a consultant for GelbChem, LLC.
(© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
Databáze: MEDLINE
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