Decreased filamentous actin and tight junction protein expression, and paracellular permeability in Frataxin-deficient human brain microvascular endothelial cells – implications for blood-brain barrier integrity in Friedreich's Ataxia

Smith FM, Kosman DJ. Decreased filamentous actin and tight junction protein expression, and paracellular permeability in Frataxin-deficient human brain microvascular endothelial cells – implications for blood-brain barrier integrity in Friedreich's Ataxia. Research Square; 2023. DOI: 10.21203/rs.3.rs-3025871/v1. 

 We identified that insufficient FXN levels in the hBMVEC BBB model causes changes in cytoskeletal architecture and tight junction protein abundance, co-incident with increased barrier permeability. Changes in the integrity of the BBB may be related to patient brain iron accumulation, neuroinflammation, neurodegeneration, and stroke. Furthermore, our findings implicate other barrier cells, e.g. , the cardiac microvasculature, likely contributory also to disease pathology in FRDA.

Frataxin inhibits the sensitivity of the myocardium to ferroptosis by regulating iron homeostasis

Zhang Z, Jiang W, Zhang C, Yin Y, Mu N, Wang Y, Yu L, Ma H. Frataxin inhibits the sensitivity of the myocardium to ferroptosis by regulating iron homeostasis. Free Radic Biol Med. 2023 Jun 19;205:305-317. doi: 10.1016/j.freeradbiomed.2023.06.016. Epub ahead of print. PMID: 37343689. 

 We showed that regulators of iron metabolism, especially iron regulatory protein activity, were increased in the ischemic myocardium or hypoxia cardiomyocytes. In addition, we found that frataxin, which is involved in iron metabolism, is differentially expressed in the ischemic and reperfused myocardium and involved in the regulation of cardiomyocytes ferroptosis.

Multiway sparse distance weighted discrimination

Guo B, Eberly LE, Henry PG, Lenglet C, Lock EF. Multiway sparse distance weighted discrimination. J Comput Graph Stat. 2023;32(2):730-743. doi: 10.1080/10618600.2022.2099404. Epub 2022 Aug 30. PMID: 37377729; PMCID: PMC10292743. 

 Magnetic resonance spectroscopy (MRS) was used to measure the abundance of several metabolites across multiple neurological regions and across multiple time points in a mouse model of Friedreich’s ataxia, yielding a four-way data array.

Adult-Onset Neuroepidemiology in Finland: Lessons to Learn and Work to Do

Sipilä JOT. Adult-Onset Neuroepidemiology in Finland: Lessons to Learn and Work to Do. Journal of Clinical Medicine. 2023 Jun;12(12):3972. DOI: 10.3390/jcm12123972. PMID: 37373667. 

Some disorders, such as Friedreich's ataxia (FRDA) and Wilson's disease (WD), are almost absent or completely absent in the population.