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

ABSTRACT: 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<

SUBMITTER: Farhat NY 

PROVIDER: S-EPMC11050712 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature