🧬 biology

Common variant-based genome editing to address the heterogeneity of pathogenic variants in dominant disorders

该论文介绍了“COVER”,一种不依赖于突变的、等位基因特异性的基因组编辑框架,它利用常见的顺式变异来选择性地使常染色体显性遗传疾病中的致病等位基因失活,从而显著扩大了在902个基因中的治疗覆盖范围,并在阿尔茨海默病和亚历山大病模型中展示了其有效性。

Nancy Ip, Yifan Fu, Yangyang Duan, Han Cao, Hayley Wing Sum Tsang, Lok-Yin Wong, Sunny Yik-Man Ngai, Wing-Yu Fu, Amy Fu2026-09-04
🧬 biology

Impact of aging and caloric restriction on markers of mitochondrial dynamics, biogenesis, mitophagy, and autophagy in multiple metabolically active tissues

本研究表明,衰老会导致组织特异性的线粒体质量控制转变,其特征在于肝脏、横膈膜和骨骼肌中线粒体融合增加且自噬受损,而心脏则不受影响,而长期热量限制通过促进肝脏中的分裂与线粒体自噬,并在多个代谢活跃组织中恢复自噬平衡,从而选择性地抵消这些变化。

Shima Taherkhani, Jean-Philippe Leduc-Gaudet, Julie Faitg, Olivier Reynaud, Guylaine Ferland, Pierrette Gaudreau, Gilles (…)2026-09-04
🧬 biology

Ecotypes, Diversity and Insecticide Resistance in Culex vectors of Filarial Worms Across Cameroon's Forest and Humid Savannah

这项在喀麦隆进行的为期五年的横断面研究揭示了库蚊媒介在叮咬行为、遗传多样性和杀虫剂抗性特征方面存在显著的生态区依赖性差异,凸显了湿润稀树草原带广泛存在的抗性问题,以及对持续监测和改进控制策略的紧迫需求。

Pilate Nkineh Kwi, Sharon Bessem Etta-Mbianyor, Anne Efosi Ngomba, Ann lilian Wangui, Nadesh Wepsiya Kako, Blessing Enjo (…)2026-09-04
🧬 biology

LRRK2 variant spectrum and association study in a multi-ethnic cohort of Malaysian Parkinson’s disease patients

本研究呈现了在多民族马来西亚帕金森病队列中最为全面的 LRRK2 变异目录,识别出 77 个杂合非同义变异,并证实了 p.G2385R 风险等位基因与华人亚组疾病易感性增加之间的显著关联。

Kai Shi Lim, Jia Lun Lim, Maria Teresa Periñan, Yi Wen Tay, Tzi Shin Toh, Lei-Cheng Lit, Anis Nadhirah Khairul Anuar, Ha (…)2026-09-04
🧬 biology

Diffusive ssDNA surveillance and bidirectional exoribonucleolytic digestion by RNase H2 ensure thorough clearance of RNA–DNA hybrids

这项研究揭示了 RNase H2 采用了一种新颖的“监测并消除”机制,即它沿单链 DNA 进行双向扩散以连续移除残留的 RNA 片段,从而在尽管其细胞丰度较低的情况下,仍能确保彻底清除 RNA–DNA 杂合体。

Bo Sun, Yi Zhao, Yuting Zhang, Yanan Li, Bingkai Cheng, Xia Zhang, Xintian Ma, Lishuang Chen, Shaojuan Wu, Jinfeng Chen (…)2026-09-04