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ABC Transporters: Exporter

ABC Transporters: Exporter

ATP-binding cassette or ABC transporter is the largest superfamily of integral membrane proteins. The transporters have transmembrane-binding domains (TMDs) and nucleotide-binding domains (NBDs). The TMDs are specific to their substrates, whereas the NBDs are similar to engines that complete ATP hydrolysis to complete the substrate transport. They can be full transporters consisting of two TMDs and NBDs, half transporters with one TMD and NBD, while some encoded with a single TMD or NBD are...

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ABCA3 Deficiency-Variant-Specific Response to Hydroxychloroquine.

Xiaohua Yang¹, Maria Forstner¹, Christina K Rapp¹

¹Dr. von Haunersches Kinderspital, German Center for Lung Research, University of Munich, Lindwurmstr. 4a, 80337 Munich, Germany.

International Journal of Molecular Sciences

|May 13, 2023

Summary

This summary is machine-generated.

Hydroxychloroquine (HCQ) effectiveness for children with interstitial lung disease (chILD) caused by ABCA3 gene variants varies. In vitro testing of ABCA3 variants predicts patient response to HCQ, guiding potential therapies.

Keywords:

ABCA3 ATP-binding cassette subfamily A member 3 HCQ ILD chILD childhood interstitial lung disease diffuse parenchymal lung disease hydroxychloroquine interstitial lung disease

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Area of Science:

Genetics and Molecular Biology
Pulmonology
Pharmacology

Background:

Biallelic variants in the ATP-binding cassette subfamily A member 3 (ABCA3) gene cause interstitial lung diseases (chILD).
Currently, no definitive therapy exists for ABCA3-associated chILD; hydroxychloroquine (HCQ) is often used empirically.
The correlation between in vitro HCQ response and clinical outcomes in patients with ABCA3 deficiency is not well-established.

Purpose of the Study:

To investigate if in vitro responsiveness of ABCA3 variants to HCQ correlates with clinical outcomes in patients receiving HCQ therapy.
To evaluate the efficacy of HCQ in treating chILD caused by ABCA3 deficiency.

Main Methods:

Retrospective analysis of clinical data from chILD patients with ABCA3 deficiency treated with HCQ.
In vitro functional assays using wild-type and 16 mutant ABCA3-HA-transfected A549 cells to assess HCQ response.
Assessment of ABCA3 vesicle volume and HCQ concentration-dependent effects in vitro.

Main Results:

In vitro assays identified varying responses to HCQ across 16 ABCA3 variants: 2 complete, 5 partial, and 9 non-responders.
Clinical outcomes showed 19 patients improved or remained stable, while 20 deteriorated with HCQ treatment.
In vitro HCQ effects closely correlated with in vivo patient outcomes, with ABCA3 vesicle volume >60% of wild-type linked to responsiveness.

Conclusions:

Evidence supports an ABCA3 variant-dependent impact of HCQ in vitro.
In vitro ABCA3 variant response to HCQ may predict in vivo treatment efficacy in chILD patients.
Further research is needed to validate these findings for guiding HCQ therapy in ABCA3-deficient chILD.