Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia

Fleszar, Z., Dufke, C., Sturm, M. et al. Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia. J Neurol (2023). doi:10.1007/s00415-023-11745-8 

We here showcase how the introduction of short-read genome sequencing (SR-GS) allows to overcome these biases in the work-up of complex ataxias, as it allows to detect even intronic STRs (i) “en route”, i.e. with detection not requiring any primary direct gene analysis; and (ii) in a phenotype-independent fashion”, i.e. also for those atypical phenotypic presentations where the corresponding gene and mutational mechanism had not been part of the prior differential clinical diagnosis.

Communicating Health Literacy on Prescription Medications on Social Media: In-depth Interviews With “Patient Influencers”

Willis E, Friedel K, Heisten M, Pickett M, Bhowmick A; Communicating Health Literacy on Prescription Medications on Social Media: In-depth Interviews With “Patient Influencers”, J Med Internet Res 2023;25:e41867, URL: https://www.jmir.org/2023/1/e41867, DOI: 10.2196/41867 

This study aimed to explore how patient influencers communicate health literacy on pharmaceutical medications on social media to their communities of followers.

Adenosine Improves Mitochondrial Function and Biogenesis in Friedreich’s Ataxia Fibroblasts Following L-Buthionine Sulfoximine-Induced Oxidative Stress

Lew, S.Y.; Mohd Hisam, N.S.; Phang, M.W.L.; Syed Abdul Rahman, S.N.; Poh, R.Y.Y.; Lim, S.H.; Kamaruzzaman, M.A.; Chau, S.C.; Tsui, K.C.; Lim, L.W.; Wong, K.H. Adenosine Improves Mitochondrial Function and Biogenesis in Friedreich’s Ataxia Fibroblasts Following L-Buthionine Sulfoximine-Induced Oxidative Stress. Biology 2023, 12, 559. doi:10.3390/biology12040559 

 Our study demonstrated that adenosine targeted mitochondrial defects in FRDA, contributing to improved mitochondrial function and biogenesis, leading to cellular iron homeostasis. Therefore, we suggest a possible therapeutic role for adenosine in FRDA.