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Related Experiment Video

Updated: Jun 21, 2025

Author Spotlight: Studying the Impact of Maternal Dietary Deficiencies on Long-Term Offspring Health Outcomes

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Published on: June 28, 2024

SLC10A5 deficiency causes hypercholanemia.

Yuqing Xu^1,2, Yeqing Qian^1,2, 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).

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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.