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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Molecular Phenotypes Segregate Missense Mutations in SLC13A5 Epilepsy.

Valeria Jaramillo-Martinez¹, Souad R Sennoune¹, Elena B Tikhonova¹

¹Department of Cell Biology and Biochemistry, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA.

Journal of Molecular Biology

|October 23, 2024

Summary

This summary is machine-generated.

Mutations in the sodium-coupled citrate transporter (NaCT, SLC13A5) cause epilepsy. This study classifies mutations into two groups based on protein expression and transport function, guiding future therapeutic strategies for SLC13A5 Epilepsy.

Keywords:

NaCT biogenesis folding defect proteasomal degradation transport defect

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Area of Science:

Molecular Biology
Neuroscience
Genetics

Background:

The sodium-coupled citrate transporter (NaCT, SLC13A5) is crucial for citrate uptake, driven by sodium gradients.
Mutations in SLC13A5 lead to early infantile epileptic encephalopathy type-25 (EIEE25, SLC13A5 Epilepsy) due to impaired neuronal and astrocyte citrate transport.
Understanding the molecular mechanisms of these mutations is vital for developing effective treatments.

Purpose of the Study:

To mechanistically classify six frequent SLC13A5 mutations.
To investigate the impact of these mutations on protein cell surface expression and citrate transport function.
To provide insights into the molecular defects underlying SLC13A5 Epilepsy.

Main Methods:

Phenotyping of six frequent SLC13A5 mutations.
Assessment of protein cell surface expression and citrate transport activity.
Analysis of protein glycosylation, cellular localization, and half-life.

Main Results:

Mutations were classified into Class I (impaired transport, normal expression) and Class II (low expression, ER retention, impaired transport).
Class I mutants include C50R, T142M, and T227M; Class II mutants include G219R, S427L, and L488P.
Post-translational defects, including protein folding and glycosylation issues in Class II mutants, were identified, with mRNA levels remaining similar to wild-type.

Conclusions:

This classification provides a mechanistic understanding of SLC13A5 mutations in epilepsy.
Class I and Class II mutations necessitate distinct therapeutic strategies.
Findings illuminate NaCT trafficking pathways and offer a foundation for targeted treatments for SLC13A5 Epilepsy.