Post-transcriptional regulation of genes and mitochondrial disorder

Biomolecular crosstalk between the nuclear and mitochondrial genome facilitates the complex cellular functions performed by mitochondria. These functions are facilitated by the mitochondrial import of nuclear-encoded proteins and nucleic acids. A subset of them is involved in mitochondrial genome maintenance playing an important role in processes such as replication, transcription, posttranscription, translation, and posttranslation. Here, in this chapter, we describe the post-transcriptional process such as endonucleolytic processing, maturation, stability, and decay. Defects in any of these steps lead to a class of disorders known as post-transcriptional mitochondrial disorders. Genetic investigations have identified several variations in genetic loci that contribute toward the presentation of clinical manifestations ranging from neurological to metabolic defects. Modeling disease-causing variants in cellular and animal systems have advanced our mechanistic understanding of the pathophysiology of these kinds of disorders. These studies have been reviewed in this chapter.