Rosa canina L. Methanol Extract and Its Component Rutin Reduce Cholesterol More Efficiently than Miglustat in Niemann–Pick C Fibroblasts

International Journal of Molecular Sciences, Journal Year: 2024, Volume and Issue: 25(21), P. 11361 - 11361

Published: Oct. 22, 2024

Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder where 95% of the cases are caused by mutations in C1 (NPC1) gene. Loss function NPC1 mutants trigger accumulation cholesterol late endo-lysosomes and dysfunction. The current study examined potential polyphenol-rich methanol extracts from

Language: Английский

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Cerebrospinal Fluid and Serum Neuron‐Specific Enolase in Niemann‐Pick Disease Type C1

American Journal of Medical Genetics Part A, Journal Year: 2024, Volume and Issue: unknown

Published: Dec. 17, 2024

ABSTRACT Niemann‐Pick disease, type C1 (NPC1) is an ultra rare, autosomal recessive disorder characterized by impaired intracellular cholesterol trafficking. This study assessed neuron‐specific enolase (NSE) as a biomarker for disease status and treatment response in individuals with NPC1. We also evaluated the concordance between serum cerebrospinal fluid (CSF) NSE measurements. A total of 34 NPC1 were included this analysis. Overall, 10 participants used to compare concurrent samples CSF NSE. levels correlated indexes severity (Annual Severity Increment Score [ASIS] age neurological onset) burden (NPC Neurological [NSS]). was elevated CSF, but paired CSF/serum not ( r s = −0.16, p 0.64). Additionally, no significant correlations observed clinical measures either or severity. values showed positive association ASIS 0.37, 0.0291) onset NPC NSSs. Longitudinal analysis nine 0.0317) decrease after initiation intrathecal 2‐hydroxypropyl‐β‐cyclodextrin (IT HPβCD) therapy. suggests that may have some utility therapeutic trials.

Language: Английский

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Niemann-pick disease with visceral and pulmonary involvement in a resource limited setting: A rare case report

Radiology Case Reports, Journal Year: 2024, Volume and Issue: 20(3), P. 1456 - 1460

Published: Dec. 21, 2024

Language: Английский

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Circadian Influences on Brain Lipid Metabolism and Neurodegenerative Diseases

Metabolites, Journal Year: 2024, Volume and Issue: 14(12), P. 723 - 723

Published: Dec. 22, 2024

Circadian rhythms are intrinsic, 24 h cycles that regulate key physiological, mental, and behavioral processes, including sleep–wake cycles, hormone secretion, metabolism. These controlled by the brain’s suprachiasmatic nucleus, which synchronizes with environmental signals, such as light temperature, consequently maintains alignment day–night cycle. Molecular feedback loops, driven core circadian “clock genes”, Clock, Bmal1, Per, Cry, essential for rhythmic gene expression; disruptions in these loops associated various health issues. Dysregulated lipid metabolism brain has been implicated pathogenesis of neurological disorders contributing to oxidative stress, neuroinflammation, synaptic dysfunction, observed conditions Alzheimer’s Parkinson’s diseases. Disruptions expression have shown perturb regulatory mechanisms brain, thereby triggering neuroinflammatory responses damage. This review synthesizes current insights into interconnections between metabolism, a focus on their roles disease. It further examines how desynchronization genes affects explores potential through disrupted signaling might contribute pathophysiology neurodegenerative disorders.

Language: Английский

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Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1

Journal of Inherited Metabolic Disease, Journal Year: 2023, Volume and Issue: 47(2), P. 317 - 326

Published: Dec. 22, 2023

Language: Английский

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