AI Article Synopsis
- Mitochondrial translation is key for creating the mitochondrial oxidative phosphorylation system (OXPHOS), which generates the majority of ATP in cells.
- Variants in mitochondrial DNA or nuclear genes affecting mitochondrial translation can disrupt OXPHOS biogenesis, leading to various mitochondrial diseases.
- The study identifies three new patients with distinct compound heterozygous variants in the FARS2 gene, linked to symptoms like spastic tetraparesis and myoclonic epilepsy.
Article Abstract
Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for the cell. Hypomorphic and loss-of-function variants in either mitochondrial DNA or in nuclear genes that encode mitochondrial translation factors can result in impaired OXPHOS biogenesis and mitochondrial diseases with variable clinical presentations. Compound heterozygous or homozygous missense and frameshift variants in the FARS2 gene, that encodes the mitochondrial phenylalanyl-tRNA synthetase, are commonly linked to either early-onset epileptic mitochondrial encephalopathy or spastic paraplegia. Here, we expand the genetic spectrum of FARS2-linked disease with three patients carrying novel compound heterozygous variants in the FARS2 gene and presenting with spastic tetraparesis, axial hypotonia and myoclonic epilepsy in two cases.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940479 | PMC |
| http://dx.doi.org/10.1038/s41431-020-00757-x | DOI Listing |
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