Alzheimer's disease (AD) is the most common neurodegenerative disease influenced by genetic and environmental factors. Brain-derived neurotrophic factor (BDNF) plays an important role in the progression of AD, but the genetic association between BDNF and AD remains controversial. In this study, we aimed to explore the potential association between genetic variants in BDNF and AD in Han Chinese and to investigate whether the association is affected by gender. A 3-stage study was conducted to evaluate the genetic association between BDNF and AD. Data mining of the reported expression data, brain-imaging data, and biomarker data in AD patients was also performed to further validate the results. We found a female-specific genetic association of rs6265 with AD and a gender-related messenger RNA expression of BDNF in brain tissues of AD patients. In addition, we observed a clear female-specific risk trend for the effect of rs6265 on AD endophenotypes. Our results clarified the available controversies regarding the role of rs6265 in AD and indicated that BDNF may be a female-specific risk gene for AD.
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http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.023 | DOI Listing |
Elife
January 2025
Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.
View Article and Find Full Text PDFCurr Med Chem
January 2025
Laboratory of Angiopathology Institute of General Pathology and Pathophysiology, 8, Baltiiskaya Street, 125315, Moscow, Russia.
This review discusses the possibility of inheritance of some diseases through mutations in mitochondrial DNA. These are examples of many mitochondrial diseases that can be caused by mutations in mitochondrial DNA. Symptoms and severity can vary widely depending on the specific mutation and affected tissues.
View Article and Find Full Text PDFIntroduction: Age-associated depletion in nicotinamide adenine dinucleotide (NAD+) concentrations has been implicated in metabolic, cardiovascular, and neurodegenerative disorders. Supplementation with NAD+ precursors, such as nicotinamide riboside (NR), offers a potential therapeutic avenue against neurodegenerative pathologies in aging, Alzheimer's disease, and related dementias. A crossover, double-blind, randomized placebo (PBO) controlled trial was conducted to test the safety and efficacy of 8 weeks' active treatment with NR (1 g/day) on cognition and plasma AD biomarkers in older adults with subjective cognitive decline and mild cognitive impairment.
View Article and Find Full Text PDFMycoKeys
January 2025
Hainan Academy of Forestry (Hainan Academy of Mangrove), Haikou, 571100, China Hainan Academy of Forestry (Hainan Academy of Mangrove) Haikou China.
is a large and complex genus of macrofungi, playing a critical role in ecosystems as decomposers and possessing antimicrobial, anticancer, and antioxidant properties. This paper described two new species discovered on fallen leaves in Hainan Tropical Rainforest National Park, based on morphological characteristics and genetic sequences. Detailed color illustrations and comparisons with similar species were provided.
View Article and Find Full Text PDFWorld J Gastrointest Oncol
January 2025
Department of Thoracic Surgery, Zhongshan Hospital Affiliated to Fudan University, Shanghai 200032, China.
Background: Transforming growth factor-β (TGF-β) superfamily plays an important role in tumor progression and metastasis. Activin A receptor type 1C (ACVR1C) is a TGF-β type I receptor that is involved in tumorigenesis through binding to different ligands.
Aim: To evaluate the correlation between single nucleotide polymorphisms (SNPs) of ACVR1C and susceptibility to esophageal squamous cell carcinoma (ESCC) in Chinese Han population.
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