SARS-CoV-2 attacks the weakest point - COVID-19 course in a pediatric patient with Friedreich's ataxia

Kamil Faltin, Zuzanna Lewandowska, Paweł Małecki, Krzysztof Czyż, Emilia Szafran, Agnieszka Kowalska-Tupko, Anna Mania, Katarzyna Mazur-Melewska, Katarzyna Jończyk-Potoczna, Waldemar Bobkowski, Magdalena Figlerowicz; International Journal of Infectious Diseases, 2022, doi:10.1016/j.ijid.2022.02.021. 

COVID-19 pandemic is the biggest epidemiological problem of the 21st century. The severe course of SARS-CoV-2 infection in children is rare. Sometimes, especially in patients with chronic disease, COVID-19 may be insidious and life-threatening. This article presents the course of COVID-19 in a 17-year-old boy with Friedreich's ataxia-induced hypertrophic cardiomyopathy. Despite that the main symptoms of COVID-19 (i.e., fever, cough) were moderate at the beginning of the illness, the patient condition deteriorated rapidly due to cardiac problems, atrial fibrillation, and heart failure. He required antiarrhythmic treatment and pharmacological and electrical cardioversion. Moreover, because of pneumonia requiring supplemental oxygen, remdesivir and convalescent plasma therapy were utilized in this patient. For the patient recovery, the administration of the antiviral treatment was crucial.

R. Protein Mutations and Stability, a Link with Disease: The Case Study of Frataxin

Puglisi, Biomedicines 2022, 10, 425. doi:10.3390/biomedicines10020425

Protein mutations may lead to pathologies by causing protein misfunction or propensity to degradation. For this reason, several studies have been performed over the years to determine the capability of proteins to retain their native conformation under stress condition as well as factors to explain protein stabilization and the mechanisms behind unfolding. In this review, we explore the paradigmatic example of frataxin, an iron binding protein involved in Fe–S cluster biogenesis, and whose impairment causes a neurodegenerative disease called Friedreich’s Ataxia (FRDA). We summarize what is known about most common point mutations identified so far in heterozygous FRDA patients, their effects on frataxin structure and function and the consequences of its binding with partners.