Perrault syndrome (PRLTS) is a rare autosomal recessive disorder which is associated with pathogenic variants in HSD17B4, HARS2, CLPP, LARS2, GGPS1, RMND1, TWNK, ERAL1, and PRORP genes. The disease is characterized by sensorineural hearing loss, sometimes with neurological signs, including progressive sensory and motor peripheral neuropathy, cerebellar ataxia, mild mental retardation, and ovarian dysgenesis in females. In this article, we report a case of a child diagnosed with spastic diplegic cerebral palsy. Determination of the segregation status of the parents of a proband with a rare compound heterozygote in the gene HSD17B4 will help the genetic counselling for the prognosis of Perrault syndrome in the family.
Molecular chaperones HSP70 and HSP90 represent a critical, yet conflict-ridden, node in plant physiology, particularly under the dual impact of heat stress and viral infection. As key components of both thermotolerance (maintaining proteostasis) and innate immunity (stabilization of NLR receptors), they are simultaneously exploited by viruses to facilitate their own life cycle. This review critically analyzes this “trilemma,” focusing on the hypothesis of competition for a limited chaperone pool. We present mechanistic insights indicating that during heat stress, cellular priority shifts towards maintaining global proteostasis, thereby diverting chaperones from immune functions. This resource-based competition mechanism potentially explains the collapse of ETI-immunity, as NLR receptors, deprived of support from the HSP90-SGT1-RAR1 complex, are destabilized and targeted for degradation. We also integrate adjacent signaling pathways into this model, including hormonal cross-talk (SA, JA) and autophagy. Understanding this trade-off opens new perspectives for molecular breeding and the biotechnological engineering of stress-resilient crop varieties.
1 January 2025 in BULLETIN of the L.N. Gumilyov Eurasian National University. BIOSCIENCE Series
Ferroptosis-like cell death in plants is a recently described mechanism triggered by iron accumulation and lipid peroxidation; however, its role in viral infection remains unclear. In this study, we investigated the effect of iron (Fe-EDTA) treatment on Nicotiana benthamiana plants infected with wild-type tomato bushy stunt virus (wtTBSV). Morphological and biochemical analyses under combined stress revealed pronounced symptoms, including growth inhibition, necrosis, leaf yellowing, chlorosis, and leaf deformation, while the expression of the viral suppressor protein P19 was reduced. Biochemical assays showed that low Fe-EDTA concentrations maintained the photosynthetic apparatus and increased chlorophyll content, whereas high concentrations induced lipid peroxidation and ferroptosis-like cell death. Our results suggest that excess iron activates RNA interference and ferroptosis-like death, thereby suppressing viral infection, while low iron concentrations preserve photosynthetic activity and alleviate symptoms. In addition, combined stress led to reduced levels of HSP70 and HSP90, indicating that iron homeostasis may interfere with cellular chaperones essential for viral replication. These findings highlight the key role of ferroptosis-like cell death in plant-virus interactions.
30 September 2025 in Fundamental and Experimental Biology
Research aimed at studying plant DNA damage caused by various stress factors is an important area of modern molecular biology and genetics. In recent decades, there has been an intensive development of methods that make it possible to analyze in detail the molecular reactions of plants to abiotic and biotic stresses, which significantly deepens our understanding of the mechanisms of plant adaptation to adverse conditions. One of the key aspects of such studies is the assessment of damage to genetic material, which plays an important role in disrupting the normal functioning of plant cells and tissues. Special attention is paid to the combined effects of stress factors such as high fever and viral infections, such as Tobacco bushy stunt virus (TBSV) infection, which can significantly disrupt DNA integrity and disrupt normal cellular processes. This, in turn, can lead to changes in the activity of key genes, DNA repair, as well as effects on the physiological and morphological characteristics of plants. In this article, we examined three methods that are actively used to assess DNA damage under combined stress conditions: COMET, TUNNEL and FISH. These methods allow for a comprehensive analysis of DNA damage, as well as to investigate their relationship to physiological and cellular changes in plants exposed to viral and temperature stress. The purpose of this study is to explore the prospects of using COMET, FISH and TUNNEL assay methods to assess the level of damage in plant DNA under the influence of abiotic and biotic stress. The research is aimed at analyzing their effectiveness, as well as identifying advantages and limitations when working with plant objects.