DNAJC30 is a mitochondrial chaperone protein enriched in neurons that regulates mitochondrial respiration and ATP synthesis. It associates with ATP synthase complexes and facilitates ATP production, while also mediating the turnover of damaged mitochondrial complex I N-module subunits exposed to reactive oxygen species, thereby maintaining complex I functional efficiency 1. The gene's primary clinical significance lies in Leber hereditary optic neuropathy (LHON). Biallelic DNAJC30 mutations cause autosomal recessive LHON (arLHON), which clinically mimics the classic maternally inherited mitochondrial form but demonstrates distinct features including younger age of onset, more frequent bilateral presentation, and higher rates of spontaneous or idebenone-responsive vision recovery 123. The c.152A>G (p.Tyr51Cys) variant accounts for the majority of disease alleles, particularly in Central and Eastern European populations where it shows strong founder effects 24. DNAJC30 deficiency also associates with Leigh syndrome, a severe pediatric mitochondrial disease characterized by basal ganglia and brainstem lesions 3. Additionally, DNAJC30 links to brain development through its interaction with ATP synthase, as demonstrated by studies of the 7q11.23 deletion in Williams syndrome 5.