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Updated: Jun 21, 2025
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Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes
Published on: June 28, 2024
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SLC10A5 deficiency causes hypercholanemia
Yuqing Xu1,2, Yeqing Qian1,2, Ying Yu1
1Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Hepatology (Baltimore, Md.)
|July 10, 2024
Summary
Solute Carrier Family 10 Member 5 (SLC10A5) transports bile acids. Its deficiency impairs bile acid uptake, leading to elevated bile acid levels (hypercholanemia).
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Solute Carrier Family 10 Member 5 (SLC10A5) is a transporter in the SLC10 family.
- Its specific role in bile acid metabolism and hypercholanemia is not well understood.
Purpose of the Study:
- To investigate the function of SLC10A5 in bile acid metabolism.
- To determine the role of SLC10A5 in the development of hypercholanemia.
Main Methods:
- Whole-exome and Sanger sequencing identified SLC10A5 variants.
- CRISPR/Cas9 generated knockout and point mutation mouse models.
- Cellular assays assessed bile acid uptake, gene expression (FXR, SHP, CYP7A1, CYP8B1), and protein localization.
Main Results:
- A heterozygous SLC10A5 variant (c.994_995del) was found in hypercholanemia patients.
- SLC10A5 deficiency in mice increased serum and liver bile acids.
- Gene editing led to downregulated FXR/SHP and upregulated CYP7A1/CYP8B1, indicating disrupted bile acid homeostasis.
- SLC10A5 knockdown/knockout inhibited bile acid uptake in vitro.
Conclusions:
- SLC10A5 plays a crucial role in bile acid uptake.
- Deficiency in SLC10A5 function results in hypercholanemia.
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