Uncovering a Novel Pathogenic Mechanism of <i>BCS1L</i> in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.

ABSTRACT: The BCS1L gene encodes a mitochondrial chaperone which inserts the Fe₂S₂ iron-sulfur Rieske protein into the nascent electron transfer complex III. Variants in the BCS1L gene are associated with a spectrum of mitochondrial disorders, ranging from mild to severe phenotypes. Björnstad syndrome, a milder condition, is characterized by sensorineural hearing loss (SNHL) and pili torti. More severe disorders include Complex III Deficiency, which leads to neuromuscular and metabolic dysfunctions with multi-systemic issues and Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, and Lactic Acidosis syndrome (GRACILE). The severity of these conditions varies depending on the specific BCS1L mutation and its impact on mitochondrial function. This s

SUBMITTER: Capaci V 

PROVIDER: S-EPMC12027322 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature