Related Experiment Video
Updated: May 24, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
Published on: October 10, 2025
Exercise-induced lactic acidemia associated with a SLC16A13 biallelic variant.
Narin Intarak1, Sasiprapa Prommanee1,2, Thanakorn Theerapanon1
1Center of Excellence for Precision Medicine and Digital Health, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand.
A novel gene variant causes exercise-induced lactic acidemia by impairing lactate clearance. This discovery links genetic factors to exercise intolerance and metabolic issues, impacting human health.
Area of Science:
- Genetics
- Metabolic Disorders
- Exercise Physiology
Background:
- Impaired lactate clearance and exercise-induced lactic acidemia lack a clear molecular basis.
- Understanding the genetic underpinnings of exercise intolerance is crucial for metabolic health.
Purpose of the Study:
- To identify the genetic cause of profound exercise-induced lactic acidemia in a pediatric patient.
- To investigate the role of the solute carrier gene SLC16A13 in lactate metabolism and exercise tolerance.
Main Methods:
- Clinical phenotyping, exercise stress testing, and metabolic profiling of a patient with growth delay.
- Whole-genome sequencing to identify genetic variants.
- Generation and analysis of Slc16a13 knockout mice subjected to exercise challenges.
Main Results:
- A novel homozygous frameshift variant (c.24delC, p.Asp9Thrfs*50) in SLC16A13 was identified in the patient.
- Slc16a13 knockout mice exhibited significantly impaired blood lactate decline post-exercise (p=0.001) and altered amino acid metabolism.
- The findings establish a direct link between SLC16A13 dysfunction and exercise-induced lactic acidemia.
Conclusions:
- SLC16A13 is a critical regulator of lactate metabolism in humans.
- Biallelic variants in SLC16A13 cause exercise-induced lactic acidemia, revealing a novel genetic mechanism for exercise intolerance.
- This research sheds light on the molecular basis of metabolic dysregulation during exercise stress.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
07:15Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Related Concept Videos
Diabetic Ketoacidosis ll: Pathophysiology
Glucose Transporters
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Diabetic Ketoacidosis l: Introduction
Inborn Errors of Metabolism
Muscle Recovery and Fatigue
Lysosomal Hydrolases