From the Research
TARS2 mutations are associated with a rare autosomal recessive disorder characterized by developmental delay, intellectual disability, seizures, and mitochondrial dysfunction, and treatment focuses on symptom management and supportive care, as evidenced by the most recent study in 2024 1. The implications of a TARS2 mutation are significant, and patients often present with early-onset severe axial hypotonia, limb hypertonia, psychomotor developmental delay, epilepsy, and brain anomalies.
- Key features of the disorder include:
- Developmental delay and intellectual disability
- Seizures and mitochondrial dysfunction
- Brain anomalies and axial hypotonia
- Limb hypertonia and psychomotor developmental delay Currently, there is no specific cure for TARS2-related disorders, and treatment remains primarily supportive, with a focus on symptom management, including:
- Anticonvulsants for seizure control
- Physical therapy for motor issues
- Supportive care tailored to individual symptoms A multidisciplinary approach involving neurologists, geneticists, and developmental specialists is recommended, and early intervention programs can help maximize developmental potential, as noted in a study from 2023 2. Genetic counseling is advised for affected families to understand inheritance patterns and recurrence risks, and research into mitochondrial disorders continues, with recent studies in 2024 3, 1 providing new insights into the clinical characteristics and genotypic information of COXPD21. The condition results from impaired mitochondrial protein synthesis due to defective threonyl-tRNA synthetase, which disrupts energy production in cells, particularly affecting high-energy organs like the brain and muscles, as described in a study from 2014 4. Overall, the management of TARS2 mutations requires a comprehensive and supportive approach, with a focus on improving quality of life and maximizing developmental potential, as emphasized in recent studies 5, 3, 1.