Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich’s ataxia patients

Daniel Nachun, Fuying Gao, Charles Isaacs, Cassandra Strawser, Zhongan Yang, Deepika Dokuru, Victoria Van Berlo, Renee Sears, Jennifer Farmer, Susan Perlman, David R Lynch, Giovanni Coppola; Human Molecular Genetics, ddy198, doi:10.1093/hmg/ddy198

We identified a transcriptional signature strongly enriched for an inflammatory innate immune response. Future studies should seek to further characterize the role of peripheral inflammation in FRDA pathology and determine its relevance to overall disease progression.

A missed Fe-S cluster handoff causes a metabolic shakeup

Olivier Berteau; The Journal of Biological Chemistry 293, 8312-8313. doi: 10.1074/jbc.H118.002883

these findings hold significance for the biochemical and medical communities because the cellular phenotype induced mirrors pathological conditions encountered, for example, in nonadipose tissues such as heart and liver with possible connections to Friedreich's ataxia, nonalcoholic fatty liver disease, and nonalcoholic steatohepatitis. Further research at the intersection between Fe-S cluster biogenesis and cellular metabolism is thus more than likely to bring unexpected insights into the pathogenesis of poorly understood diseases.

Acute loss of iron–sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells

Daniel R. Crooks, Nunziata Maio§, Andrew N. Lane, Michal Jarnik, Richard M. Higashi, Ronald G. Haller, Ye Yang, Teresa W-M. Fan, W. Marston Linehan and Tracey A. Rouault; The Journal of Biological Chemistry 293, 8297-8311. doi: 10.1074/jbc.RA118.001885

Elucidation of the mechanisms of citrate and lipid droplet accumulation in nonadipose tissues during disease states may reveal important insights into the pathogenesis of a significant number of poorly understood diseases.