Gaucher's disease

The article presents a rare clinical case of Gaucher's disease, a hereditary disease that belongs to lysosomal accumulation diseases. A 36-year-old patient was admitted to the clinic with complaints of pain in the left half of the abdomen, pain in the chest, cough with yellow sputum, difficulty breathing due to pain, general weakness. The mental underdevelopment, hepatosplenomegaly, anemia, thrombocytopenia, and the threat of rupture of the spleen were revealed in the process of collecting anamnesis and examination. The patient was transferred to the surgical department, and a splenectomy was performed. Histological examination of the spleen and genetic examination confirmed the diagnosis of Gaucher's disease.

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Functional read out of defective osteoclast function in an in vitro model of Gaucher's disease

Endocrine Abstracts ◽

10.1530/endoabs.34.p26 ◽

2014 ◽

Author(s):

Sarbjit Nijjar ◽

Neil Gittoes ◽

Tarekegn Geberhiwot

Keyword(s):

In Vitro Model ◽

Gaucher's Disease ◽

Gaucher’S Disease ◽

Vitro Model ◽

Osteoclast Function

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Sudden death due to undiagnosed Gaucher's disease: Case report and revue of the literature

10.26226/morressier.578f37fbd462b8028d890126 ◽

2016 ◽

Author(s):

Youssef Chkirbene

Keyword(s):

Case Report ◽

Sudden Death ◽

Gaucher's Disease ◽

Gaucher’S Disease ◽

Disease Case

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Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)

Molecular Brain ◽

10.1186/s13041-021-00790-x ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Etsuro Nakanishi ◽

Norihito Uemura ◽

Hisako Akiyama ◽

Masato Kinoshita ◽

Sawamura Masanori ◽

...

Keyword(s):

Microglial Activation ◽

Biochemical Analysis ◽

Neuronal Cell ◽

Cell Loss ◽

Pathological Changes ◽

Gaucher's Disease ◽

Gaucher’S Disease ◽

Short Lifespan ◽

Behavioral Abnormalities ◽

Glucocerebrosidase Gene

AbstractHomozygous mutations in the lysosomal glucocerebrosidase gene, GBA1, cause Gaucher’s disease (GD), while heterozygous mutations in GBA1 are a strong risk factor for Parkinson’s disease (PD), whose pathological hallmark is intraneuronal α-synuclein (asyn) aggregates. We previously reported that gba1 knockout (KO) medaka exhibited glucosylceramide accumulation and neuronopathic GD phenotypes, including short lifespan, the dopaminergic and noradrenergic neuronal cell loss, microglial activation, and swimming abnormality, with asyn accumulation in the brains. A recent study reported that deletion of GBA2, non-lysosomal glucocerebrosidase, in a non-neuronopathic GD mouse model rescued its phenotypes. In the present study, we generated gba2 KO medaka and examined the effect of Gba2 deletion on the phenotypes of gba1 KO medaka. The Gba2 deletion in gba1 KO medaka resulted in the exacerbation of glucosylceramide accumulation and no improvement in neuronopathic GD pathological changes, asyn accumulation, or swimming abnormalities. Meanwhile, though gba2 KO medaka did not show any apparent phenotypes, biochemical analysis revealed asyn accumulation in the brains. gba2 KO medaka showed a trend towards an increase in sphingolipids in the brains, which is one of the possible causes of asyn accumulation. In conclusion, this study demonstrated that the deletion of Gba2 does not rescue the pathological changes or behavioral abnormalities of gba1 KO medaka, and GBA2 represents a novel factor affecting asyn accumulation in the brains.

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