Phenotype of Mrps5-Associated Phylogenetic Polymorphisms Is Intimately Linked to Mitoribosomal Misreading

Reda Juskeviciene
Universität Zürich
June 1, 2022
Int J Mol Sci
https://pubmed.ncbi.nlm.nih.gov/35457201

This article is currently being updated. View its version on PubMed.

https://pubmed.ncbi.nlm.nih.gov/35457201

Research summary

This study explored the impact of specific Mrps5 point mutations (V338Y and G315R) on mitochondrial ribosome fidelity. The V338Y mutation resulted in mitoribosomal misreading, impaired mitochondrial function, altered behavior, and accelerated age-related phenotypes. The G315R mutation showed no pathological effect.

Key outcome of the study

V338Y mutation causes mitoribosomal misreading and physiological dysfunction; G315R does not, highlighting mutation-specific impacts on mitochondrial translation.

Mouse model

Knockin mouse models with Mrps5 point mutations V338Y and G315R, developed by genOway to mimic human mitochondrial ribosomal protein polymorphisms.

TARGET:
Mrps5
Mitochondrial ribosomal protein S5

Keywords

Aging, Mitochondrial disorders, Neurobehavior, Hearing loss, Ribosomal fidelity

Technical specifications

Knockin, Point mutation, FLEx technology, Mitoribosome, Translation accuracy

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