This technology includes the generation and use of HeLa cell lines that have the TANK-binding kinase 1 (TBK1) gene knocked out solely or in combination with either the genes NDP52 or OPTN. Both NDP52 and OPTN are receptors involved in the degradation of mitochondria, mitophagy. The TBK1 kinase has a role in enhancing the effect of mitophagy on these receptors. Mutations in TBK1 have been shown to be associated with neurodegenerative diseases such as Parkinson, frontotemporal dementia, and amyotrophic lateral sclerosis (ALS).
This discovery allows for exploration into the specific function of NDP52 and Optineurin(OPTN)/TBK1 in mitochondrial degradation (mitophagy).
There are no other double knockout mice to study the role of these mitophagy-related genes.