Cerebral involvement in sitosterolemia.

BACKGROUND: Sitosterolemia, an autosomal recessive condition, is characterized by impaired metabolism of plant sterols. Clinical symptoms include skin xanthoma, premature atherosclerotic disease, arthritis, and unexplained hematological abnormalities. However, there is a dearth of studies on sitosterolemia-related brain damage. METHODS: This study focused on the family of two sitosterolemia patients who presented with severe hypercholesterolemia and xanthoma. Radiological examinations, biopsies, whole-exome sequencing (WES), and plant sterol tests were conducted. RESULTS: The index patient, a 66-year-old female, initially exhibited weakness in both lower limbs and later developed urinary and fecal incontinence. Neuroimaging showed that the falx of the brain had irregular fusiform thickening. Significant tissue edema was observed around the lesions in the bilateral frontal-parietal lobes. Pathological analysis of the biopsied brain lesion revealed extensive cholesterol crystal deposition and lymphocyte infiltration in the matrix. The index patient who experienced cerebral impairment and her sister both carried two compound heterozygous variants in ATP binding cassette transporter G5 (ABCG5). These included the nonsense variants NM_022436: c.751 C > T (p.Q251X) in exon 6 and NM_022436: c.1336 C > T (p.R446X) in exon 10. A notable increase in plant sterol levels was observed in the younger sister of the index patient. CONCLUSION: This study highlights a previously unreported neurological aspect of sitosterolemia. Imaging and pathology findings suggest that cholesterol crystals may be deposited in connective tissues such as the cerebral falx and pia mater through blood circulation.

Long-term species-level observations indicate the critical role of soil moisture in regulating China's grassland productivity relative to phenological and climatic factors.

As a sensitive indicator of climate change and a key variable in ecosystem surface-atmosphere interaction, vegetation phenology, and the growing season length, as well as climatic factors (i.e., temperature, precipitation, and sunshine duration) are widely recognized as key factors influencing vegetation productivity. Recent studies have highlighted the importance of soil moisture in regulating grassland productivity. However, the relative importance of phenology, climatic factors, and soil moisture to plant species-level productivity across China's grasslands remains poorly understood. Here, we use nearly four decades (1981 to 2018) of in situ species-level observations from 17 stations distributed across grasslands in China to examine the key mechanisms that control grassland productivity. The results reveal that soil moisture is the strongest determinant of the interannual variability in grassland productivity. In contrast, the spring/autumn phenology, the length of vegetation growing season, and climate factors have relatively minor impacts. Generally, annual aboveground biomass increases by 3.9 to 25.3 g∙m2 (dry weight) with a 1 % increase in growing season mean soil moisture across the stations. Specifically, the sensitivity of productivity to moisture in wetter and colder environments (e.g., alpine meadows) is significantly higher than that in drier and warmer environments (e.g., temperate desert steppes). In contrast, the sensitivity to the precipitation of the latter is greater than the former. The effect of soil moisture is the most pronounced during summer. Dominant herb productivity is more sensitive to soil moisture than the others. Moreover, multivariate regression analyses show that the primary climatic factors and their attributions to variations in soil moisture differ among the stations, indicating the interaction between climate and soil moisture is very complex. Our study highlights the interspecific difference in the soil moisture dependence of grassland productivity and provides guidance to climate change impact assessments in grassland ecosystems.

The EIN3/EIL-ERF9-HAK5 transcriptional cascade positively regulates high-affinity K+ uptake in Gossypium hirsutum.

High-affinity K+ (HAK) transporters play essential roles in facilitating root K+ uptake in higher plants. Our previous studies revealed that GhHAK5a, a member of the HAK family, is crucial for K+ uptake in upland cotton. Nevertheless, the precise regulatory mechanism governing the expression of GhHAK5a remains unclear. The yeast one-hybrid screening was performed to identify the transcription factors responsible for regulating GhHAK5a, and ethylene response factor 9 (GhERF9) was identified as a potential candidate. Subsequent dual-luciferase and electrophoretic mobility shift assays confirmed that GhERF9 binds directly to the GhHAK5a promoter, thereby activating its expression. Silencing of GhERF9 decreased the expression of GhHAK5a and exacerbated K+ deficiency symptoms in leaves, also decreased K+ uptake rate and K+ content in roots. Additionally, it was observed that the application of ethephon (an ethylene-releasing reagent) resulted in a significant upregulation of GhERF9 and GhHAK5a, accompanied by an increased rate of K+ uptake. Expectedly, GhEIN3b and GhEIL3c, the two key components involved in ethylene signaling, bind directly to the GhERF9 promoter. These findings provide valuable insights into the molecular mechanisms underlying the expression of GhHAK5a and ethylene-mediated K+ uptake and suggest a potential strategy to genetically enhance cotton K+ uptake by exploiting the EIN3/EILs-ERF9-HAK5 module.