Genetic Diagnosis of Familial Hypercholesterolemia in Asia
FRONTIERS IN GENETICS
Authors: Huang, Chin-Chou; Charng, Min-Ji
Abstract
Familial hypercholesterolemia (FH) is a common genetic disease with an incidence of about 1 in 200-500 individuals. Genetic mutations markedly elevate low-density lipoprotein cholesterol and atherosclerotic cardiovascular disease (ASCVD) in FH patients. With advances in clinical diagnosis and genetic testing, more genetic mutations have been detected, including those in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and so on. Globally, most FH patients remain undiagnosed, untreated, or inappropriately treated. Recently, there was a Global Call to Action by the Global Familial Hypercholesterolemia Community to reduce the health burden of FH. Asia, despite being the most populous continent with half of the global population, has low FH detection rates compared to Western countries. Therefore, we aimed to review the current status of FH genetic diagnosis in Asia to understand the gaps in FH diagnosis and management in this region.
Iron-Sulfur Cluster Protein NITROGEN FIXATION S-LIKE1 and Its Interactor FRATAXIN Function in Plant Immunity
PLANT PHYSIOLOGY
Authors: Fonseca, Jose Pedro; Lee, Hee-Kyung; Boschiero, Clarissa; Griffiths, Marcus; Lee, Seonghee; Zhao, Patrick; York, Larry M.; Mysore, Kirankumar S.
Abstract
Iron-sulfur (Fe-S) clusters are inorganic cofactors that are present in all kingdoms of life as part of a large number of proteins involved in several cellular processes, including DNA replication and metabolism. In this work, we demonstrate an additional role for two Fe-S cluster genes in biotic stress responses in plants. Eleven Fe-S cluster genes, including the NITROGEN FIXATION S-LIKE1 (NFS1) and its interactor FRATAXIN (FH), when silenced in Nicotiana benthamiana, compromised nonhost resistance to Pseudomonas syringae pv. tomato T1. NbNFS1 expression was induced by pathogens and salicylic acid. Arabidopsis (Arabidopsis thaliana) atnfs and atfh mutants, with reduced AtNFS1 or AtFH gene expression, respectively, showed increased susceptibility to both host and nonhost pathogen infection. Arabidopsis AtNFS1 and AtFH overexpressor lines displayed decreased susceptibility to infection by host pathogen P. syringae pv. tomato DC3000. The AtNFS1 overexpression line exhibited constitutive upregulation of several defense-related genes and enrichment of gene ontology terms related to immunity and salicylic acid responses. Our results demonstrate that NFS1 and its interactor FH are involved not only in nonhost resistance but also in basal resistance, suggesting a new role of the Fe-S cluster pathway in plant immunity.