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Dip2a regulates stress susceptibility in the basolateral amygdala

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Neural Regeneration Research 2025年第6期20卷 1735-1748页

作者： Jing Li Zixuan He Weitai Chai Meng Tian Huali Yu Xiaoxiao He Xiaojuan Zhu Key Laboratory of Molecular Epigenetics Ministry of Education Institute of Genetics and CytologyNortheast Normal UniversityChangchunJilin ProvinceChina

Dysregulation of neurotransmitter metabolism in the central nervous system contributes to mood disorders such as depression, anxiety, and post–traumatic stress disorder. Monoamines and amino acids are important types of neurotransmitters. Our previous results have shown that disco-interacting protein 2 homolog A(Dip2a) knockout mice exhibit brain development disorders and abnormal amino acid metabolism in serum. This suggests that DIP2A is involved in the metabolism of amino acid–associated neurotransmitters. Therefore, we performed targeted neurotransmitter metabolomics analysis and found that Dip2a deficiency caused abnormal metabolism of tryptophan and thyroxine in the basolateral amygdala and medial prefrontal cortex. In addition, acute restraint stress induced a decrease in 5-hydroxytryptamine in the basolateral amygdala. Additionally, Dip2a was abundantly expressed in excitatory neurons of the basolateral amygdala, and deletion of Dip2a in these neurons resulted in hopelessness-like behavior in the tail suspension test. Altogether, these findings demonstrate that DIP2A in the basolateral amygdala may be involved in the regulation of stress susceptibility. This provides critical evidence implicating a role of DIP2A in affective disorders.

关键词： 5-hydroxytryptamine acute restraint stress basolateral amygdala CaMKII neurons DIP2A metabolomics neurotransmitters principal component analysis stress susceptibility tryptophan

genetics provides new individualized therapeutic targets for Parkinson’s disease

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Neural Regeneration Research 2021年第5期16卷 994-995页

作者： Eric Joshua Garcia Ellen Sidransky Medical genetics branch National Human Genome Research InstituteNational Institutes of HealthBethesdaMDUSA

The identification of genes increasing one’s risk of developing common,complex disorders like Parkinson’s disease(PD)can provide novel therapeutic opportunities.A prime example of this are the consequences of mutations in GBA1,the gene responsible for the lysosomal storage disorder Gaucher disease(GD).GD is a multi-system disorder,primarily affecting tissues of the reticuloendothelial system.A subset of patients with GD also have neuronopathic manifestations(types 2 and 3 GD).

关键词： therapeutic consequences primarily

Amyloid-β-induced disruption of axon-initial-segment mitochondria localization:consequences for TAU missorting in Alzheimer's disease pathology

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Neural Regeneration Research 2025年第5期20卷 1407-1408页

作者： Daniel Adam Felix Langerscheidt Hans Zempel Institute of Human genetics University Hospital CologneCologneGermany Center for Molecular Medicine Cologne(CMMC) University of CologneCologneGermany

TAU is a neuronal microtubule-associated protein preferentially located in *** a battery of neurodegenerative diseases termed"tauopathies,"including Alzheimer's disease (AD),TAU is missorted and abnormally phosphorylated,leading to filamentous accumulations of hyperphosphorylated TAU,a pathological hallmark and potential disease driver of AD and related tauopathies (Zempel,2024).

关键词： Alzheimer tau diseases

Highlights of genetics research over the past four decades in China

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Journal of genetics and Genomics 2018年第11期45卷 561-562页

作者： Yongbiao Xue Yaping Zhang Journal of genetics and Genomics China genetics Society of China China

The year of 2018 marks China’s 40th anniversary of the reform and opening up. Coincidently, this year is also the 40th anniversary of genetics Society of China (GSC), one of the largest academic organizations in China. In October of 1978, GSC was formally established in Nanjing, ushering a new era of genetics research in China, and its mission is to promote genetics research and *** focuses on the study of genes, genetic variations, and heredity in living organisms. It has permeated every field of

关键词： Highlights of genetics research over the past four decades in China GSC

Journal of genetics and Genomics in 2023:progresses and beyond

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Journal of genetics and Genomics 2024年第1期51卷 1-2页

作者： Xiu-Fen Song Xiaoxuan Guo Jing Zhao Yutian Zhang Yuan Qin Jianru Zuo Journal of genetics and Genomics Institute of Genetics and Developmental BiologyChinese Academy of Sciences&the Genetics Society of ChinaBeijing 100101China

Journal of genetics and Genomics(JGG),launched in 1974,celebrates its 50th birthday in *** continuous support from our authors,reviewers,readers,and the editorial board,JGG has made remarkable progress in the past year by publishing 122 papers covering major disciplines in life sciences and medical genetics with exciting *** is worthwhile to note that we have recruited 66 young talents to join JGG as junior editors,resulting in significant improvement in manuscript evaluation and journal ***,we summarize major progresses reported in JGG in 2023 fromaneditorial view.

关键词： journal beyond promotion

Therapeutic potential of exercise-hormone irisin in Alzheimer's disease

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Neural Regeneration Research 2025年第6期20卷 1555-1564页

作者： Eunhee Kim Rudolph ETanzi Se Hoon Choi genetics and Aging Research Unit MassGeneral Institute for Neurodegenerative DiseaseDepartment of NeurologyMassachusetts General HospitalHarvard Medical SchoolCharlestownMAUSA McCance Center for Brain Health Massachusetts General HospitalBostonMAUSA

Irisin is a myokine that is generated by cleavage of the membrane protein fibronectin type Ⅲ domain-containing protein 5(FNDC5) in response to physical exercise. Studies reveal that irisin/FNDC5 has neuroprotective functions against Alzheimer's disease, the most common form of dementia in the elderly, by improving cognitive function and reducing amyloid-β and tau pathologies as well as neuroinflammation in cell culture or animal models of Alzheimer's disease. Although current and ongoing studies on irisin/FNDC5 show promising results, further mechanistic studies are required to clarify its potential as a meaningful therapeutic target for alleviating Alzheimer's disease. We recently found that irisin treatment reduces amyloid-β pathology by increasing the activity/levels of amyloid-β-degrading enzyme neprilysin secreted from astrocytes. Herein, we present an overview of irisin/FNDC5's protective roles and mechanisms against Alzheimer's disease.

关键词： Alzheimer's disease exercise fibronectin typeⅢdomain-containing protein 5(FNDC5) irisin

Effects of P301L-TAU on post-translational modifications of microtubules in human iPSC-derived cortical neurons and TAU transgenic mice

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Neural Regeneration Research 2025年第8期20卷 2348-2360页

作者： Mohamed Aghyad Al Kabbani Christoph Köhler Hans Zempel Institute of Human genetics Faculty of Medicine and University Hospital CologneUniversity of CologneCologneGermany Center for Molecular Medicine Cologne(CMMC) University of CologneCologneGermany Center Anatomy Department ⅡMedical FacultyUniversity of CologneCologneGermany

TAU is a microtubule-associated protein that promotes microtubule assembly and stability in the *** is missorted and aggregated in an array of diseases known as *** are essential for neuronal function and regulated via a complex set of post-translational modifications,changes of which affect microtubule stability and dynamics,microtubule interaction with other proteins and cellular structures,and mediate recruitment of microtubule-severing *** impairment of microtubule dynamics causes neuronal dysfunction,we hypothesize cognitive impairment in human disease to be impacted by impairment of microtubule *** therefore aimed to study the effects of a disease-causing mutation of TAU(P301L)on the levels and localization of microtubule post-translational modifications indicative of microtubule stability and dynamics,to assess whether P301L-TAU causes stability-changing modifications to *** investigate TAU localization,phosphorylation,and effects on tubulin post-translational modifications,we expressed wild-type or P301L-TAU in human MAPT-KO induced pluripotent stem cell-derived neurons(i Neurons)and studied TAU in neurons in the hippocampus of mice transgenic for human P301L-TAU(p R5 mice).Human neurons expressing the longest TAU isoform(2N4R)with the P301L mutation showed increased TAU phosphorylation at the AT8,but not the p-Ser-262 epitope,and increased polyglutamylation and acetylation of microtubules compared with endogenous TAU-expressing neurons.P301L-TAU showed pronounced somatodendritic presence,but also successful axonal enrichment and a similar axodendritic distribution comparable to exogenously expressed 2N4R-wildtype-TAU.P301L-TAU-expressing hippocampal neurons in transgenic mice showed prominent missorting and tauopathy-typical AT8-phosphorylation of TAU and increased polyglutamylation,but reduced acetylation,of microtubules compared with non-transgenic *** sum,P301L-TAU results in changes in micr

关键词： human induced pluripotent stem cell microtubules P301L pR5 mice TAU tauopathy tubulin code

A population genetics model of linkage disequilibrium in admixed populations

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Chinese Science Bulletin 2001年第3期46卷 193-197页

作者： Shiheng Tao Rongmei Zhang Jianhua Chu Xiaoming Liu Liping Du Qingyuan Qi Zewei Luo Laboratory of Population and Quantitative genetics Institute of Genetics School of Life Science Fudan University Shanghai China

Understanding linkage disequilibrium (LD) created in admixed population and the rate of decay in the disequilibrium over evolution is an important subject in population genetics theory and in disease gene mapping in human populations. The present study represents the theoretical investigation of effects of gene frequencies, levels of LD and admixture proportions of donor populations on the evolutionary dynamics of the LD of the admixed population. We examined the conditions under which the admixed population reached linkage equilibrium or the peak level of the LD. The study reveals the inappropriateness in approximating the dynamics of the LD generated by population admixture by the commonly used formula in literature. An appropriate equation for the dynamics isproposed. The distinct feature of the newly suggested formula is that the value of the nonlinear component of the LD remains constant in the first generation of the population evolution. Comparison between the predicted disequilibrium dynamics

关键词： linkage disequilibrium admixture population error analysis.

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genetics of diabetes

World Journal of Diabetes 2023年第6期14卷 656-679页

作者： Shiwali Goyal Jyoti Rani Mohd Akbar Bhat Vanita Vanita Department of Ophthalmic genetics and Visual Function branch National Eye InstituteRockvilleMD 20852United States Department of Human genetics Guru Nanak Dev UniversityAmritsar 143005PunjabIndia Department of Ophthalmology Georgetown University Medical CenterWashington DCDC 20057United States

Diabetes mellitus is a complicated disease characterized by a complex interplay of genetic,epigenetic,and environmental *** is one of the world's fastestgrowing diseases,with 783 million adults expected to be affected by *** macrovascular consequences(cerebrovascular disease,cardiovascular disease,and peripheral vascular disease)and microvascular complications(like retinopathy,nephropathy,and neuropathy)increase mortality,blindness,kidney failure,and overall quality of life in individuals with *** risk factors and glycemic management alone cannot predict the development of vascular problems;multiple genetic investigations have revealed a clear hereditary component to both diabetes and its related *** the twenty-first century,technological advancements(genome-wide association studies,nextgeneration sequencing,and exome-sequencing)have led to the identification of genetic variants associated with diabetes,however,these variants can only explain a small proportion of the total heritability of the *** this review,we address some of the likely explanations for this"missing heritability",for diabetes such as the significance of uncommon variants,gene-environment interactions,and *** discoveries clinical value,management of diabetes,and future research directions are also discussed.

关键词： Type 1 diabetes Type 2 diabetes Gestational diabetes mellitus Maturityonset diabetes of young Genome-wide association studies Common variants Rare variants