Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches

Niemann–Pick disease (NPD) is another type of metabolic disorder that is classified as lysosomal storage diseases (LSDs). The main cause of the disease is mutation in the SMPD1 (type A and B) or NPC1 or NPC2 (type C) genes, which lead to the accumulation of lipid substrates in the lysosomes of the l...

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Vydáno v:	Cell biochemistry and function Ročník 42; číslo 4; s. e4028 - n/a
Hlavní autoři:	Hosseini, Kamran, Fallahi, Jafar, Razban, Vahid, Sirat, Reyhaneh Zayyani, Varasteh, Mahnaz, Tarhriz, Vahideh
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England Wiley Subscription Services, Inc 01.06.2024
Témata:	Animals Bone marrow Disease Gene therapy Genes Genetic Therapy Health services Humans Intracellular Signaling Peptides and Proteins - genetics Intracellular Signaling Peptides and Proteins - metabolism Lipids Lysosomal storage diseases Lysosomes Medical treatment metabolic disorder Metabolic disorders Mutation Niemann-Pick C1 Protein Niemann-Pick disease Niemann-Pick Disease, Type C - genetics Niemann-Pick Disease, Type C - metabolism Niemann-Pick Disease, Type C - pathology Niemann-Pick Disease, Type C - therapy Niemann-Pick Diseases - genetics Niemann-Pick Diseases - metabolism Niemann-Pick Diseases - pathology Niemann-Pick Diseases - therapy NPC Npc1 protein Signs and symptoms Sphingomyelin Phosphodiesterase - genetics Sphingomyelin Phosphodiesterase - metabolism Substrates Vesicular Transport Proteins - genetics Vesicular Transport Proteins - metabolism NPC gene therapy lysosomal storage diseases metabolic disorder Niemann–Pick disease
ISSN:	0263-6484, 1099-0844, 1099-0844
On-line přístup:	Získat plný text
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Popis
Shrnutí:	Niemann–Pick disease (NPD) is another type of metabolic disorder that is classified as lysosomal storage diseases (LSDs). The main cause of the disease is mutation in the SMPD1 (type A and B) or NPC1 or NPC2 (type C) genes, which lead to the accumulation of lipid substrates in the lysosomes of the liver, brain, spleen, lung, and bone marrow cells. This is followed by multiple cell damage, dysfunction of lysosomes, and finally dysfunction of body organs. So far, about 346, 575, and 30 mutations have been reported in SMPD1, NPC1, and NPC2 genes, respectively. Depending on the type of mutation and the clinical symptoms of the disease, the treatment will be different. The general aim of the current study is to review the clinical and molecular characteristics of patients with NPD and study various treatment methods for this disease with a focus on gene therapy approaches. Significance statement This work concerns an overview of Niemann–Pick disease (types A, B, and C) of clinical, molecular, and therapeutic features (focus on therapy approaches especially gene therapy).
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23
ISSN:	0263-6484 1099-0844 1099-0844
DOI:	10.1002/cbf.4028