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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Veröffentlicht in:Cell biochemistry and function Jg. 42; H. 4; S. e4028 - n/a
Hauptverfasser: Hosseini, Kamran, Fallahi, Jafar, Razban, Vahid, Sirat, Reyhaneh Zayyani, Varasteh, Mahnaz, Tarhriz, Vahideh
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Wiley Subscription Services, Inc 01.06.2024
Schlagworte:
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
Online-Zugang:Volltext
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Abstract 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).
AbstractList 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).
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.
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.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.
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. 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).
Author Razban, Vahid
Sirat, Reyhaneh Zayyani
Hosseini, Kamran
Fallahi, Jafar
Varasteh, Mahnaz
Tarhriz, Vahideh
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  orcidid: 0000-0003-1189-7143
  surname: Hosseini
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  organization: Shiraz University of Medical Sciences
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  surname: Fallahi
  fullname: Fallahi, Jafar
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  surname: Razban
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  organization: Shiraz University of Medical Sciences
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  givenname: Reyhaneh Zayyani
  surname: Sirat
  fullname: Sirat, Reyhaneh Zayyani
  organization: Zand Institute of Higher Education
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  givenname: Mahnaz
  surname: Varasteh
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  givenname: Vahideh
  surname: Tarhriz
  fullname: Tarhriz, Vahideh
  organization: Louisiana State University Health Sciences Center
BackLink https://www.ncbi.nlm.nih.gov/pubmed/38715125$$D View this record in MEDLINE/PubMed
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Keywords NPC
gene therapy
lysosomal storage diseases
metabolic disorder
Niemann–Pick disease
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2023; 8
2013; 20
2019; 126
1992; 15
2022; 416
2005; 1039
2014; 67
2022; 137
2003; 12
2021; 36
1997; 90
2020; 4
2021; 32
2023; 24
2020; 130
2020; 131
2017; 39
2008; 64
2020; 43
2004; 101
2021; 4
2009; 21
2023; 12
2006; 12
2017; 26
2023; 18
2018; 306
2017; 27
1982; 73
2015; 10
2006
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2003
2008; 97
2022; 44
2001; 68
2018; 65
2001; 69
2009; 29
2021; 14
2004; 111
2015; 23
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2011; 108
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2023
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Snippet 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...
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...
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SubjectTerms 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
Title Overview of clinical, molecular, and therapeutic features of Niemann–Pick disease (types A, B, and C): Focus on therapeutic approaches
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fcbf.4028
https://www.ncbi.nlm.nih.gov/pubmed/38715125
https://www.proquest.com/docview/3072377230
https://www.proquest.com/docview/3052595642
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