P279: Development of functional screening for improved understanding of TK2 genetic variants

Genetics in Medicine Open 2026 Open access

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Authors: María Esteban López, Sarah Esther Chang, Kaja Zarakowska, Ashley A. Jermusyk
DOI: 10.1016/j.gimo.2026.103773
Cited by: 0

Abstract

Thymidine kinase 2 deficiency (TK2d) (OMIM 609560) is an ultra-rare, life-threatening mitochondrial disease caused by autosomal recessive pathogenic variants in the thymidine kinase 2 (TK2) gene. TK2 is a mitochondrial enzyme involved in deoxynucleotide triphosphate (dNTP) metabolism for mitochondrial DNA (mtDNA) replication and repair. Impaired TK2 activity leads to an imbalance in the dNTP pool, causing mtDNA depletion and/or multiple deletions. Patients with TK2d present with progressive proximal myopathy and respiratory weakness, with many losing the ability to walk, eat and breathe independently.

Fields of Study & Subjects

Mitochondrial Function and Pathology Metabolism and Genetic Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103773–103773
Publication date
1 January 2026
Language
EN