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Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy. Kufor-Rakeb 综合征相关性精神病:一种新型功能缺失 ATP13A2 变异和对抗抑郁治疗的反应。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-07-18 DOI: 10.1007/s10048-024-00767-7
Mark Ainsley Colijn, Stephanie Vrijsen, Ping Yee Billie Au, Rania Abou El Asrar, Marine Houdou, Chris Van den Haute, Justyna Sarna, Greg Montgomery, Peter Vangheluwe
{"title":"Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.","authors":"Mark Ainsley Colijn, Stephanie Vrijsen, Ping Yee Billie Au, Rania Abou El Asrar, Marine Houdou, Chris Van den Haute, Justyna Sarna, Greg Montgomery, Peter Vangheluwe","doi":"10.1007/s10048-024-00767-7","DOIUrl":"10.1007/s10048-024-00767-7","url":null,"abstract":"<p><p>Biallelic (autosomal recessive) pathogenic variants in ATP13A2 cause a form of juvenile-onset parkinsonism, termed Kufor-Rakeb syndrome. In addition to motor symptoms, a variety of other neurological and psychiatric symptoms may occur in affected individuals, including supranuclear gaze palsy and cognitive decline. Although psychotic symptoms are often reported, response to antipsychotic therapy is not well described in previous case reports/series. As such, we describe treatment response in an individual with Kufor-Rakeb syndrome-associated psychosis. His disease was caused by a homozygous novel loss-of-function ATP13A2 variant (NM_022089.4, c.1970_1975del) that was characterized in this study. Our patient exhibited a good response to quetiapine monotherapy, which he has so far tolerated well. We also reviewed the literature and summarized all previous descriptions of antipsychotic treatment response. Although its use has infrequently been described in Kufor-Rakeb syndrome, quetiapine is commonly used in other degenerative parkinsonian disorders, given its lower propensity to cause extrapyramidal symptoms. As such, quetiapine should be considered in the treatment of Kufor-Rakeb syndrome-associated psychosis when antipsychotic therapy is deemed necessary.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11534834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141635966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. 印度的脊髓小脑共济失调 27B 型 (SCA27B):一项大型队列研究揭示了其古老的起源。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-07-08 DOI: 10.1007/s10048-024-00770-y
Tiyasha De, Pooja Sharma, Bharathram Upilli, A Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Faruq
{"title":"Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin.","authors":"Tiyasha De, Pooja Sharma, Bharathram Upilli, A Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Faruq","doi":"10.1007/s10048-024-00770-y","DOIUrl":"10.1007/s10048-024-00770-y","url":null,"abstract":"<p><strong>Background: </strong>The ethnic diversity of India provides a unique opportunity to study the history of the origin of mutations of genetic disorders. Spinocerebellar ataxia type 27B (SCA27B), a recently identified dominantly inherited cerebellar disorder is caused by GAA-repeat expansions in intron 1 of Fibroblast Growth Factor 14 (FGF14). Predominantly reported in the European population, we aimed to screen this mutation and study the founder haplotype of SCA27B in Indian ataxia patients.</p><p><strong>Methods: </strong>We have undertaken screening of GAA repeats in a large Indian cohort of ~ 1400 uncharacterised ataxia patients and kindreds and long-read sequencing-based GAA repeat length assessment. High throughput genotyping-based haplotype analysis was also performed. We utilized ~ 1000 Indian genomes to study the GAA at-risk expansion alleles.</p><p><strong>Findings: </strong>We report a high frequency of 1.83% (n = 23) of SCA27B in the uncharacterized Indian ataxia cohort. We observed several biallelic GAA expansion mutations (n = 5) with younger disease onset. We observed a risk haplotype (AATCCGTGG) flanking the FGF14-GAA locus over a 74 kb region in linkage disequilibrium. We further studied the frequency of this risk haplotype across diverse geographical population groups. The highest prevalence of the risk haplotype was observed in the European population (29.9%) followed by Indians (21.5%). The observed risk haplotype has existed through ~ 1100 generations (~ 22,000 years), assuming a correlated genealogy.</p><p><strong>Interpretation: </strong>This study provides valuable insights into SCA27B and its Upper Paleolithic origin in the Indian subcontinent. The high occurrence of biallelic expansion is probably relevant to the endogamous nature of the Indian population.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141556069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex. 韩国结节性硬化综合症患者的基因型和表型分析。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-08-07 DOI: 10.1007/s10048-024-00777-5
Hui Jin Shin, Sangbo Lee, Se Hee Kim, Joon Soo Lee, Ji Young Oh, Ara Ko, Hoon-Chul Kang
{"title":"Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.","authors":"Hui Jin Shin, Sangbo Lee, Se Hee Kim, Joon Soo Lee, Ji Young Oh, Ara Ko, Hoon-Chul Kang","doi":"10.1007/s10048-024-00777-5","DOIUrl":"10.1007/s10048-024-00777-5","url":null,"abstract":"<p><p>Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by mutations in the TSC1 or TSC2 gene. The aim of this study was to analyze the genotypes and phenotypes of Korean patients diagnosed with TSC and expand our understanding of this disorder. This retrospective observational study included 331 patients clinically diagnosed with TSC between November 1990 and April 2023 at Severance Children's Hospital, Seoul, South Korea. The demographic and clinical characteristics of the patients were investigated. Thirty novel variants were identified. Of the 331 patients, 188 underwent genetic testing, and genotype-phenotype variation was analyzed according to the type of gene mutation and functional domain. Fourty-nine patients (49/188, 26%) were had TSC1 mutations, 103 (55%) had TSC2 mutations, and 36 (19%) had no mutation identified (NMI). Hotspots were identified in exons 8 of TSC1 and exons 35 and 41 of TSC2. Patients with TSC2 mutations exhibited a significantly younger age at the time of seizure onset and had refractory epilepsy. Infantile epileptic spasms syndrome (IESS) was more common in the middle mutation domain of TSC2 than in the hamartin domain. Additionally, retinal hamartoma, cardiac rhabdomyoma, and renal abnormalities were significantly associated with TSC2 compared with other gene types. This study contributes to our understanding of TSC by expanding the genotypic spectrum with novel variants and providing insights into the clinical spectrum of patients with TSC in Korea.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141899013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs). 揭示神经发育障碍(NDDs)的三维(3D)基因组结构。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-08-27 DOI: 10.1007/s10048-024-00774-8
P Carballo-Pacoret, A Carracedo, C Rodriguez-Fontenla
{"title":"Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs).","authors":"P Carballo-Pacoret, A Carracedo, C Rodriguez-Fontenla","doi":"10.1007/s10048-024-00774-8","DOIUrl":"10.1007/s10048-024-00774-8","url":null,"abstract":"<p><p>The human genome, comprising millions of pairs of bases, serves as the blueprint of life, encoding instructions for cellular processes. However, genomes are not merely linear sequences; rather, the complex of DNA and histones, known as chromatin, exhibits complex organization across various levels, which profoundly influence gene expression and cellular function. Central to understanding genome organization is the emerging field of three-dimensional (3D) genome studies. Utilizing advanced techniques such as Hi-C, researchers have unveiled non-random dispositions of genomic elements, highlighting their importance in transcriptional regulation and disease mechanisms. Topologically Associating Domains (TADs), that demarcate regions of chromatin with preferential internal interactions, play crucial roles in gene regulation and are increasingly implicated in various diseases such as cancer and schizophrenia. However, their role in Neurodevelopmental Disorders (NDDs) remains poorly understood. Here, we focus on TADs and 3D conservation across the evolution and between cell types in NDDs. The investigation into genome organization and its impact on disease has led to significant breakthroughs in understanding NDDs etiology such ASD (Autism Spectrum Disorder). By elucidating the wide spectrum of ASD manifestations, researchers aim to uncover the underlying genetic and epigenetic factors contributing to its heterogeneity. Moreover, studies linking TAD disruption to NDDs underscore the importance of spatial genome organization in maintaining proper brain development and function. In summary, this review highlights the intricate interplay between genome organization, transcriptional control, and disease pathology, shedding light on fundamental biological processes and offering insights into the mechanisms underlying NDDs like ASD.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China. 灵活自主社区治疗模式(FACT)对华南地区精神分裂症社区康复的影响。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-10-21 DOI: 10.1007/s10048-024-00778-4
Yinglin Zhao, Shaoxiong Zheng, Handi Zhang, Yinnan Zhang, Zidong Wang, Qingjun Huang
{"title":"Impact of flexible assertive community treatment model (FACT) on community rehabilitation of schizophrenia in Southern China.","authors":"Yinglin Zhao, Shaoxiong Zheng, Handi Zhang, Yinnan Zhang, Zidong Wang, Qingjun Huang","doi":"10.1007/s10048-024-00778-4","DOIUrl":"10.1007/s10048-024-00778-4","url":null,"abstract":"<p><p>Schizophrenia is a group of severe mental illnesses of unknown etiology, most of which are slow or subacute in young adults. 160 adult schizophrenic patients were randomly divided into an intervention group given FACT and a control group given routine mental health follow-up. The scale includes the Positive and Negative Syndrome Scale (PANSS), Social Disability Screening Schedule Scale (SDSS), and the World Health Organization's multicultural quality of life instrument in its brief form Scale(WHOQOL-BREF) were recorded. The average scores of positive scale, negative scale, general psychopathology scale and total score in PANSS scale before intervention(baseline) of the patients in the intervention group were 24.90 ± 5.43, 17.53 ± 3.84, 38.31 ± 4.09 and 80.54 ± 6.75. After 6 months and 12 months of intervention, positive scale, negative scale, general psychopathology scale and total score of the PANSS scale in the intervention group and the total score of SDSS all decreased significantly. The WHOQOL-BREF total score was significantly improved, and the differences were statistically significant (P < 0.05). The FACT intervention model has a significant effect on the rehabilitation of patients with schizophrenia in the community, improves their social function, and improves their quality of life.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A novel variant in the GNE gene in a Malian patient presenting with distal myopathy. 马里一名远端肌病患者的 GNE 基因出现新变异。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-08-01 DOI: 10.1007/s10048-024-00761-z
Mahamadou Kotioumbé, Alassane B Maiga, Salia Bamba, Lassana Cissé, Salimata Diarra, Salimata Diallo, Abdoulaye Yalcouyé, Fousseyni Kané, Seybou H Diallo, Dramane Coulibaly, Thomas Coulibaly, Kékouta Dembélé, Boubacar Maiga, Cheick O Guinto, Guida Landouré
{"title":"A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.","authors":"Mahamadou Kotioumbé, Alassane B Maiga, Salia Bamba, Lassana Cissé, Salimata Diarra, Salimata Diallo, Abdoulaye Yalcouyé, Fousseyni Kané, Seybou H Diallo, Dramane Coulibaly, Thomas Coulibaly, Kékouta Dembélé, Boubacar Maiga, Cheick O Guinto, Guida Landouré","doi":"10.1007/s10048-024-00761-z","DOIUrl":"10.1007/s10048-024-00761-z","url":null,"abstract":"<p><p>GNE-myopathy (GNE-M) is a rare autosomal recessive disorder caused by variants in the GNE gene. We report a novel variant in GNE causing GNE-M in a Malian family. A 19-year-old male patient from consanguineous marriage was seen for progressive walking difficulty. Neurological examination found predominant distal muscle weakness and atrophy, decreased tendon reflexes, predominating in lower limbs. Electroneuromyography showed an axonal neuropathy pattern. However, whole exome sequencing (WES) revealed a novel biallelic variant in GNE c.1838G > A:p.Gly613Glu, segregating with the phenotype within the family. This study highlights its diagnosis challenges in sub-Saharan Africa and broadens the genetic spectrum of this rare disease.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141861810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance. 揭示 IFNW1 和 IFNA21 的治疗前景:深入了解胶质瘤的发病机制和临床意义。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-07-03 DOI: 10.1007/s10048-024-00769-5
Hong Cheng, Yingjie Zhao, Xiaoli Hou, Fang Ling, Jing Wang, Yixia Wang, Yasen Cao
{"title":"Unveiling the therapeutic prospects of IFNW1 and IFNA21: insights into glioma pathogenesis and clinical significance.","authors":"Hong Cheng, Yingjie Zhao, Xiaoli Hou, Fang Ling, Jing Wang, Yixia Wang, Yasen Cao","doi":"10.1007/s10048-024-00769-5","DOIUrl":"10.1007/s10048-024-00769-5","url":null,"abstract":"<p><p>Glioma, a type of brain tumor, poses significant challenges due to its heterogeneous nature and limited treatment options. Interferon-related genes (IRGs) have emerged as potential players in glioma pathogenesis, yet their expression patterns and clinical implications remain to be fully elucidated. We conducted a comprehensive analysis to investigate the expression patterns and functional enrichment of IRGs in glioma. This involved constructing protein-protein interaction networks, heatmap analysis, survival curve plotting, diagnostic and prognostic assessments, differential expression analysis across glioma subgroups, GSVA, immune infiltration analysis, and drug sensitivity analysis. Our analysis revealed distinct expression patterns and functional enrichment of IRGs in glioma. Notably, IFNW1 and IFNA21 were markedly downregulated in glioma tissues compared to normal tissues, and higher expression levels were associated with improved overall survival and disease-specific survival. Furthermore, these genes showed diagnostic capabilities in distinguishing glioma tissues from normal tissues and were significantly downregulated in higher-grade and more aggressive gliomas. Differential expression analysis across glioma subgroups highlighted the association of IFNW1 and IFNA21 expression with key pathways and biological processes, including metabolic reprogramming and immune regulation. Immune infiltration analysis revealed their influence on immune cell composition in the tumor microenvironment. Additionally, elevated expression levels were associated with increased resistance to chemotherapeutic agents. Our findings underscore the potential of IFNW1 and IFNA21 as diagnostic biomarkers and prognostic indicators in glioma. Their roles in modulating glioma progression, immune response, and drug sensitivity highlight their significance as potential therapeutic targets. These results contribute to a deeper understanding of glioma biology and may inform the development of personalized treatment strategies for glioma patients.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141494418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India. 一组先天性肌营养不良症的表型-基因型谱:来自印度的单中心经验。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-08-05 DOI: 10.1007/s10048-024-00776-6
Tanushree Chawla, Saraswati Nashi, Dipti Baskar, Kiran Polavarapu, Seena Vengalil, Mainak Bardhan, Veeramani Preethish-Kumar, Ramya Sukrutha, Gopikrishnan Unnikrishnan, Akshata Huddar, Hansashree Padmanabha, Ram Murthy Anjanappa, Nandeesh Bevinahalli, Vidya Nittur, Manoj Rajanna, Gautham Arunachal Udupi, Atchayaram Nalini
{"title":"Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.","authors":"Tanushree Chawla, Saraswati Nashi, Dipti Baskar, Kiran Polavarapu, Seena Vengalil, Mainak Bardhan, Veeramani Preethish-Kumar, Ramya Sukrutha, Gopikrishnan Unnikrishnan, Akshata Huddar, Hansashree Padmanabha, Ram Murthy Anjanappa, Nandeesh Bevinahalli, Vidya Nittur, Manoj Rajanna, Gautham Arunachal Udupi, Atchayaram Nalini","doi":"10.1007/s10048-024-00776-6","DOIUrl":"10.1007/s10048-024-00776-6","url":null,"abstract":"<p><p>Congenital Muscular Dystrophies (CMD) are phenotypically and genotypically heterogenous disorders with a prevalence of 0.68 to 2.5/100,000, contributing to significant morbidity and mortality. We aimed to study the phenotype-genotype spectrum of genetically confirmed cases of CMD. This was retrospective & descriptive study done at a quaternary care referral centre in south India. Genetically confirmed cases of CMDs seen between 2010 to 2020 were recruited. Detailed clinical history, including pedigree, MRI brain/muscle, next generation sequencing results of 61 CMD cases were collected. Collagen VI-related dystrophy (COL6-RD) (36%) was the most common subtype with variants frequently seen in COL6A1 gene. Other CMDs identified were LAMA2-RD (26%), alpha-dystroglycan-RD (19%), LMNA-RD (8%), CHKB-RD (7%) and SEPN1-RD (3%). Similar to previous cohorts, overall, missense variants were common in COL-6 RD. Variants in triple helical domain (THD) of COL6-RD were seen in 11/22 patients, 5 of whom were ambulatory contrary to previous literature citing severe disease with these variants. However, our follow-up period was shorter. In the LAMA2-RD, 2/16 patients were ambulatory & all 16 carried truncating variants. Among dystroglycanopathies, FKRP-RD was the commonest. Milder phenotype of FKRP- RD was observed with variant c.1343C > T, which was also a recurrent variant in our cohort. p.Arg249Trp variant in LMNA-CMD associated with early loss of ambulation was also identified in 1/5 of our patients who expired at age 2.8 years. The current retrospective series provides detailed clinical features and mutation patterns of genetically confirmed cases of CMD from a single center in India.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders - a systematic review. 透视人脑表观基因组衰老过程及其在精神障碍患者中的可塑性--系统综述。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-07-05 DOI: 10.1007/s10048-024-00771-x
Jan Postberg, Michèle Tina Schubert, Vincent Nin, Lukas Wagner, Martina Piefke
{"title":"A perspective on epigenomic aging processes in the human brain and their plasticity in patients with mental disorders - a systematic review.","authors":"Jan Postberg, Michèle Tina Schubert, Vincent Nin, Lukas Wagner, Martina Piefke","doi":"10.1007/s10048-024-00771-x","DOIUrl":"10.1007/s10048-024-00771-x","url":null,"abstract":"<p><p>The debate surrounding nature versus nurture remains a central question in neuroscience, psychology, and in psychiatry, holding implications for both aging processes and the etiology of mental illness. Epigenetics can serve as a bridge between genetic predisposition and environmental influences, thus offering a potential avenue for addressing these questions. Epigenetic clocks, in particular, offer a theoretical framework for measuring biological age based on DNA methylation signatures, enabling the identification of disparities between biological and chronological age. This structured review seeks to consolidate current knowledge regarding the relationship between mental disorders and epigenetic age within the brain. Through a comprehensive literature search encompassing databases such as EBSCO, PubMed, and ClinicalTrials.gov, relevant studies were identified and analyzed. Studies that met inclusion criteria were scrutinized, focusing on those with large sample sizes, analyses of both brain tissue and blood samples, investigation of frontal cortex markers, and a specific emphasis on schizophrenia and depressive disorders. Our review revealed a paucity of significant findings, yet notable insights emerged from studies meeting specific criteria. Studies characterized by extensive sample sizes, analysis of brain tissue and blood samples, assessment of frontal cortex markers, and a focus on schizophrenia and depressive disorders yielded particularly noteworthy results. Despite the limited number of significant findings, these studies shed light on the complex interplay between epigenetic aging and mental illness. While the current body of literature on epigenetic aging in mental disorders presents limited significant findings, it underscores the importance of further research in this area. Future studies should prioritize large sample sizes, comprehensive analyses of brain tissue and blood samples, exploration of specific brain regions such as the frontal cortex, and a focus on key mental disorders. Such endeavors will contribute to a deeper understanding of the relationship between epigenetic aging and mental illness, potentially informing novel diagnostic and therapeutic approaches.</p>","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":null,"pages":null},"PeriodicalIF":1.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11534990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141536070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families. 通过全基因组测序在多重自闭症谱系障碍家族中发现 DYRK1A 基因的新剪接变异和性腺嵌合。
IF 1.6 4区 医学
Neurogenetics Pub Date : 2024-10-01 Epub Date: 2024-07-08 DOI: 10.1007/s10048-024-00768-6
Mehdi Agha Gholizadeh, Farkhondeh Behjati, Saghar Ghasemi Firouzabadi, Erfan Heidari, Ehsan Razmara, Navid Almadani, Ali Sharifi Zarchi, Masoud Garshasbi
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