Structural highlights
Disease
[BOLA3_HUMAN] Fatal multiple mitochondrial dysfunction syndrome type 2. The disease is caused by mutations affecting the gene represented in this entry.
Publication Abstract from PubMed
Assembly of mitochondrial iron-sulfur (Fe/S) proteins is a key process of cells, and defects cause many rare diseases. In the first phase of this pathway, ten Fe/S cluster (ISC) assembly components synthesize and insert [2Fe-2S] clusters. The second phase is dedicated to the assembly of [4Fe-4S] proteins, yet this part is poorly understood. Here, we characterize the BOLA family proteins Bol1 and Bol3 as specific mitochondrial ISC assembly factors that facilitate [4Fe-4S] cluster insertion into a subset of mitochondrial proteins such as lipoate synthase and succinate dehydrogenase. Bol1-Bol3 perform largely overlapping functions, yet cannot replace the ISC protein Nfu1 that also participates in this phase of Fe/S protein biogenesis. Bol1 and Bol3 form dimeric complexes with both monothiol glutaredoxin Grx5 and Nfu1. Complex formation differentially influences the stability of the Grx5-Bol-shared Fe/S clusters. Our findings provide the biochemical basis for explaining the pathological phenotypes of patients with mutations in BOLA3.
Mitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins.,Uzarska MA, Nasta V, Weiler BD, Spantgar F, Ciofi-Baffoni S, Saviello MR, Gonnelli L, Muhlenhoff U, Banci L, Lill R Elife. 2016 Aug 17;5. pii: e16673. doi: 10.7554/eLife.16673. PMID:27532772[1]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
References
- ↑ Uzarska MA, Nasta V, Weiler BD, Spantgar F, Ciofi-Baffoni S, Saviello MR, Gonnelli L, Muhlenhoff U, Banci L, Lill R. Mitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins. Elife. 2016 Aug 17;5. pii: e16673. doi: 10.7554/eLife.16673. PMID:27532772 doi:http://dx.doi.org/10.7554/eLife.16673
