Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers DOI Open Access
Paulina Szymańska-Rożek, Patryk Lipiński,

Gražina Kleinotienė

и другие.

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(22), С. 12021 - 12021

Опубликована: Ноя. 8, 2024

Gaucher disease (GD) is a lysosomal lipid storage disorder caused by β-glucocerebrosidase (encoded GBA1 gene) activity deficiency, resulting in the accumulation of glucosylceramide (Gb1) and its deacylated metabolite glucosylsphingosine (lyso-Gb1). Lyso-Gb1 has been studied previously proved to be sensitive biomarker, distinguishing patients with GD from carriers healthy subjects. It was shown that level corresponds activity, thus it remains unknown as why have slightly higher lyso-Gb1 than population. This first report on levels describing representative cohort carriers. Our data 48 carriers, including three newborns, indicated there are significant differences between having GD-affected mother (11.53 8.45, respectively, p = 0.00077), L483P variant other pathogenic variants (9.85 7.03, 0.07). Through analysing our unique newborns whose mothers GD, we also found most probably transferred foetus via placenta.

Язык: Английский

Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers DOI Open Access
Paulina Szymańska-Rożek, Patryk Lipiński,

Gražina Kleinotienė

и другие.

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(22), С. 12021 - 12021

Опубликована: Ноя. 8, 2024

Gaucher disease (GD) is a lysosomal lipid storage disorder caused by β-glucocerebrosidase (encoded GBA1 gene) activity deficiency, resulting in the accumulation of glucosylceramide (Gb1) and its deacylated metabolite glucosylsphingosine (lyso-Gb1). Lyso-Gb1 has been studied previously proved to be sensitive biomarker, distinguishing patients with GD from carriers healthy subjects. It was shown that level corresponds activity, thus it remains unknown as why have slightly higher lyso-Gb1 than population. This first report on levels describing representative cohort carriers. Our data 48 carriers, including three newborns, indicated there are significant differences between having GD-affected mother (11.53 8.45, respectively, p = 0.00077), L483P variant other pathogenic variants (9.85 7.03, 0.07). Through analysing our unique newborns whose mothers GD, we also found most probably transferred foetus via placenta.

Язык: Английский

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