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Purpose Of Review: To review the evidence for genetic modifier effects in the neurodegenerative diseases Huntington's Disease (HD), Frontotemporal Lobar Degeneration (FTLD), Alzheimer's Disease (AD), and Parkinson's Disease (PD).
Recent Findings: Increasingly, we understand human disease genetics less through the lens of single-locus/single-trait effects, and more through that of polygenic contributions to disease risk. In addition, specific examples of genetic modifier effects of the chromosome 7 gene on various target genes including those causal for Mendelian classes of FTLD - and - have emerged from both genetic cohort studies and mechanistic examinations of biological pathways.
Summary: Here, we summarize the literature reporting genetic modifier effects in HD, FTLD, AD, and PD. We further contextualize reported genetic modifier effects in these diseases in terms of insight they may lend to the concept of a polygenic landscape for the major neurodegenerative diseases.
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http://dx.doi.org/10.1007/s40142-018-0133-1 | DOI Listing |
J Am Soc Nephrol
September 2025
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Background: Genetic modifiers are believed to play an important role in the onset and severity of polycystic kidney disease (PKD), but identifying these modifiers has been challenging due to the lack of effective methodologies.
Methods: We generated zebrafish mutants of IFT140, a skeletal ciliopathy gene and newly identified autosomal dominant PKD (ADPKD) gene, to examine skeletal development and kidney cyst formation in larval and juvenile mutants. Additionally, we utilized ift140 crispants, generated through efficient microhomology-mediated end joining (MMEJ)-based genome editing, to compare phenotypes with mutants and conduct a pilot genetic modifier screen.
Curr Genet
September 2025
Fermentation and Microbial Biotechnology Division, CSIR-Indian Institute of Integrative Medicine, Canal Road, Jammu-Tawi, 180001, India.
Trichoderma species exhibit remarkable versatility in adaptability and in occupying habitats with lifestyles ranging from mycoparasitism and saprotrophy to endophytism. In this study, we present the first high-quality whole-genome assembly and annotation of T. lixii using Illumina HiSeq technology to explore the mechanisms of endophytic lifestyle and plant colonization.
View Article and Find Full Text PDFNucleic Acids Res
September 2025
School of Biomedical and Pharmaceutical Sciences, Guangdong University of Technology, No. 100 Waihuanxi Road, Guangzhou 510006, China.
The 5' untranslated region (5'UTR) plays a crucial regulatory role in messenger RNA (mRNA), with modified 5'UTRs extensively utilized in vaccine production, gene therapy, etc. Nevertheless, manually optimizing 5'UTRs may encounter difficulties in balancing the effects of various cis-elements. Consequently, multiple 5'UTR libraries have been created, and machine learning models have been employed to analyze and predict translation efficiency (TE) and protein expression, providing insights into critical regulatory features.
View Article and Find Full Text PDFJ Viral Hepat
October 2025
Department of Obstetrics and Gynecology, the Second Hospital of Nanjing, and Affiliated to Nanjing University of Chinese Medicine, Nanjing, China.
Hepatitis B virus (HBV) infection is a serious public health concern worldwide, especially during pregnancy due to the associated health risks for the mother and fetus. This study aimed to explore the relationship between alanine aminotransferase (ALT) levels, age and HBV DNA levels in pregnant women with chronic HBV infection. Our cohort study included 1743 pregnant women with HBV who gave birth from January 2021 to June 2024.
View Article and Find Full Text PDFElife
September 2025
Department of Earth and Environmental Sciences, Paleontology and Geobiology, Ludwig Maximilians-Universität München, Munich, Germany.
The rapid emergence of mineralized structures in diverse animal groups during the late Ediacaran and early Cambrian periods likely resulted from modifications of pre-adapted biomineralization genes inherited from a common ancestor. As the oldest extant phylum with mineralized structures, sponges are key to understanding animal biomineralization. Yet, the biomineralization process in sponges, particularly in forming spicules, is not well understood.
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