bioRxivJClub
Effects of bromodomain protein inhibition in a mouse model of Niemann-Pick type C disease
bioRxiv · · Preprint · Open access
Parente, Barthelemy + 10 more
Abstract ↗AI summary
The abstract is read at the publisher; the summary is JClub's.
JQ1-mediated BET protein inhibition in male mice with Niemann-Pick type C disease linked to the NPC1 I1061T variant transiently increased weight, reduced liver cholesterol, and improved the footprint test.
- Why it matters: NPCD has limited therapeutic options and unmet need for new disease-modifying approaches, especially given impaired endosomal-lysosomal lipid export from NPC1 or NPC2 variants.
- What they did: In a well-established mouse model carrying the frequent NPC1 I1061T variant, mice received intraperitoneal JQ1 or vehicle (dimethylsulfoxide), and outcomes were assessed by weight, biomarker levels, and quantitative motor coordination.
- The result: JQ1 produced beneficial effects on some measures, including transient weight gain, lower liver cholesterol, and better footprint performance, but these benefits were observed only in male and not in female mice.
The findingWhy it mattersWhat they didThe result
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