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Friedreich ataxia: what can we learn from non-GAA repeat mutations?
Neurodegener Dis Manag
January 2025
Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA, USA.
Friedreich ataxia (FRDA) is a slowly progressive neurological disease resulting from decreased levels of the protein frataxin, a small mitochondrial protein that facilitates the synthesis of iron-sulfur clusters in the mitochondrion. It is caused by GAA (guanine-adenine-adenine) repeat expansions in the gene in 96% of patients, with 4% of patients carrying other mutations (missense, nonsense, deletion) in the gene. Compound heterozygote patients with one expanded GAA allele and a non-GAA repeat mutation can have subtle differences in phenotype from typical FRDA, including, in patients with selected missense mutations, both more severe features and less severe features in the same patient.
View Article and Find Full Text PDFGrowth of microbes in competitive lifestyles promotes increased ARGs in soil microbiota: insights based on genetic traits.
Microbiome
January 2025
Key Laboratory of Environment Remediation and Ecological Health, Ministry of Education, College of Environmental and Resource Sciences, Zhejiang University, Hangzhou, 310058, China.
Background: The widespread selective pressure of antibiotics in the environment has led to the propagation of antibiotic resistance genes (ARGs). However, the mechanisms by which microbes balance population growth with the enrichment of ARGs remain poorly understood. To address this, we employed microcosm cultivation at different antibiotic (i.
View Article and Find Full Text PDFSpatiotemporal distribution of global peatland area during the Holocene.
Sci Data
January 2025
State Key Laboratory of Lithospheric and Environmental Coevolution, Institute of Geology and Geophysics, Chinese Academy of Sciences, Beijing, 100029, China.
Peatlands are a key component of terrestrial ecosystems, and their development has an important impact on global carbon cycle and climate change. However, the long-term evolution of global peatlands remains uncertain, particularly their spatial distribution. We compiled 4700 basal peatland data during Holocene, and 669 pollen data of Sphagnum with basal and end ages, to allow a more robust reconstruction of the spatial distribution of peatlands.
View Article and Find Full Text PDFNiche Evolution and Conservation of a Chinese Endemic Genus (Styracaceae).
Biology (Basel)
December 2024
Liaoning Key Laboratory of Development and Utilization for Natural Products Active Molecules, Anshan Normal University, Anshan 114000, China.
Climate change and human activities are expected to have a profound impact on the distribution of species, especially for narrowly distributed species. is endemically distributed in China, and all species are listed under Chinese protected wild species. Here, we reconstructed the phylogeny and estimated the divergence time of based on whole plastomes, conducted the niche evolution, and predicted the potential habitat area of from the LGM to the future.
View Article and Find Full Text PDFNew-type urbanization and rural revitalization: A study on the coupled development of the Yangtze River Economic Belt, China.
PLoS One
January 2025
Institute For Chengdu-Chongqing Economic Zone Development, Chongqing Technology and Business University, Chongqing, China.
The coupled development of new-type urbanization (NTU) and rural revitalization (RR) represents a critical proposition put forth by China for forging a novel paradigm of urban-rural relationship. Initially, this study employs the entropy method to quantify NTU and RR. Subsequently, it carries out a comprehensive analysis concerning their coupled relationship with the relative development degree model (RDDM), coupled coordination degree model (CCDM), Dagum Gini coefficient, kernel density estimation, and Tobit model.
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