دورية أكاديمية
أعرض في EDS

Sterol O-Acyltransferase 1 ( SOAT1 ): A Genetic Modifier of Niemann-Pick Disease, Type C1.

التفاصيل البيبلوغرافية
العنوان: Sterol O-Acyltransferase 1 ( SOAT1 ): A Genetic Modifier of Niemann-Pick Disease, Type C1.
المؤلفون: Farhat NY; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Alexander D; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., McKee K; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Iben J; Molecular Genomics Core, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Rodriguez-Gil JL; Division of Medical Genetics, Division of Neonatal and Developmental Medicine, Department of Pediatrics, Stanford University, Palo Alto, CA 94304, USA., Wassif CA; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Cawley NX; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Balch WE; Department of Molecular Medicine, Scripps Research, La Jolla, CA 92037, USA., Porter FD; Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.
المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 11; Vol. 25 (8). Date of Electronic Publication: 2024 Apr 11.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI, [2000-
مواضيع طبية MeSH: Niemann-Pick Disease, Type C*/genetics , Niemann-Pick Disease, Type C*/metabolism , Sterol O-Acyltransferase*/genetics , Sterol O-Acyltransferase*/metabolism, Humans ; Male ; Female ; Niemann-Pick C1 Protein ; Child ; Polymorphism, Single Nucleotide ; Animals ; Mice ; Phenotype ; Adolescent ; Child, Preschool ; Genes, Modifier ; Adult ; Alleles ; Severity of Illness Index ; Genotype ; Intracellular Signaling Peptides and Proteins/genetics ; Intracellular Signaling Peptides and Proteins/metabolism ; Young Adult
مستخلص: Niemann-Pick disease type C1 (NPC1) is a lysosomal disorder due to impaired intracellular cholesterol transport out of the endolysosomal compartment.. Marked heterogeneity has been observed in individuals with the same NPC1 genotype, thus suggesting a significant effect of modifier genes. Prior work demonstrated that decreased SOAT1 activity decreased disease severity in an NPC1 mouse model. Thus, we hypothesized that a polymorphism associated with decreased SOAT1 expression might influence the NPC1 phenotype. Phenotyping and genomic sequencing of 117 individuals with NPC1 was performed as part of a Natural History trial. Phenotyping included determination of disease severity and disease burden. Significant clinical heterogeneity is present in individuals homozygous for the NPC1 I1061T variant and in siblings. Analysis of the SOAT1 polymorphism, rs1044925 (A>C), showed a significant association of the C-allele with earlier age of neurological onset. The C-allele may be associated with a higher Annualized Severity Index Score as well as increased frequency of liver disease and seizures. A polymorphism associated with decreased expression of SOAT1 appears to be a genetic modifier of the NPC1 phenotype. This finding is consistent with prior data showing decreased phenotypic severity in Npc1-/-:Soat1-/- mice and supports efforts to investigate the potential of SOAT1 inhibitors as a potential therapy for NPC1.
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معلومات مُعتمدة: ZIA HD008988 and ZIA HD008989 Eunice Kennedy Shriver National Institute of Child Health and Human Development; N/A Together Strong Foundation; N/A Ara Parseghian Medical Research Fund
فهرسة مساهمة: Keywords: ACAT1; NPC1; Niemann-Pick disease; SOAT1; genetic modifiers; neurodegeneration; sterol O-acyltransferase 1; type C1
المشرفين على المادة: EC 2.3.1.26 (Sterol O-Acyltransferase)
EC 2.3.1.26 (sterol O-acyltransferase 1)
0 (Niemann-Pick C1 Protein)
0 (NPC1 protein, human)
0 (Intracellular Signaling Peptides and Proteins)
تواريخ الأحداث: Date Created: 20240427 Date Completed: 20240427 Latest Revision: 20240520
رمز التحديث: 20240520
مُعرف محوري في PubMed: PMC11050712
DOI: 10.3390/ijms25084217
PMID: 38673803
قاعدة البيانات: MEDLINE
الوصف
تدمد:1422-0067
DOI:10.3390/ijms25084217