Related Experiment Videos
Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2
Ekaterine Kartvelishvili1, Dmitry Tworowski1, Hilary Vernon2
1Department of Structural Biology, Weizmann Institute of Science, Israel.
Protein Science : a Publication of the Protein Society
|April 19, 2017
Summary
Mutations in mitochondrial phenylalanyl-tRNA synthetase (FARS2) cause severe neurological diseases. This study reveals how FARS2 mutations alter protein structure and kinetics, impacting disease mechanisms.
Area of Science:
- Biochemistry
- Molecular Biology
- Genetics
Background:
- Mitochondrial aminoacyl-tRNA synthetases (mtaaRSs) mutations can lead to diseases with specific tissue tropism.
- Pathogenic variants in the FARS2 gene, encoding human mitochondrial phenylalanyl-tRNA synthetase (HsmtPheRS), are linked to neurological disorders like spastic paraplegia and Alpers encephalopathy.
- The precise relationship between FARS2 mutations, structural changes, kinetic alterations, and disease phenotypes remains largely unknown.