Jove
Visualize
お問い合わせ
JoVE
x logofacebook logolinkedin logoyoutube logo
JoVEについて
概要リーダーシップブログJoVEヘルプセンター
著者向け
出版プロセス編集委員会範囲と方針査読よくある質問投稿
図書館員向け
推薦の声購読アクセスリソース図書館諮問委員会よくある質問
研究
JoVE JournalMethods CollectionsJoVE Encyclopedia of Experimentsアーカイブ
教育
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab Manual教員リソースセンター教員サイト
利用規約
プライバシーポリシー
ポリシー

関連する概念動画

Biological Causes of Schizophrenia01:29

Biological Causes of Schizophrenia

507
Schizophrenia, a severe psychiatric disorder, arises from a complex interplay of biological factors, including genetic predisposition, structural brain abnormalities, neurotransmitter dysregulation, and developmental irregularities. These factors collectively contribute to the onset and progression of the disorder, which typically manifests in late adolescence or early adulthood.
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
507
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

1.8K
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
1.8K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

17.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
17.9K
Psychological and Sociocultural Causes of Schizophrenia01:29

Psychological and Sociocultural Causes of Schizophrenia

481
Schizophrenia, a complex psychiatric disorder, has been historically misunderstood. Early psychological theories attributed its origins to childhood trauma and unresponsive parenting. However, contemporary research largely rejects these notions, favoring the vulnerability-stress hypothesis. This model proposes that individuals with a genetic predisposition to schizophrenia may develop the disorder following exposure to significant environmental stressors. Notably, studies on high-risk...
481
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.6K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.6K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

15.3K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.3K

こちらも読む

関連記事

共著者、ジャーナル、引用グラフによってこの研究に関連する記事。

並び替え
Same author

Foot Shape Changes During Pregnancy and Postpartum Are Associated With Patient Pain and Function.

Clinical orthopaedics and related research·2026
Same author

Generative Artificial Intelligence and Prompt Engineering in Asthma-Related Settings.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology·2026
Same author

AI-Assisted, Literature-Informed Development and Retrospective Validation of a Point-Based Surgical Site Infection Risk Calculator for Spine Surgery.

Global spine journal·2026
Same author

Correction of a Prolapsed Stoma With the "Phillips" Ileostomy Technique.

Diseases of the colon and rectum·2025
Same author

2025 Canadian Surgery Forum: Sept. 17-20, 2025.

Canadian journal of surgery. Journal canadien de chirurgie·2025
Same author

Reducing surgical site infections in patients undergoing pancreatic resection: a quality improvement initiative.

BMJ open quality·2025

関連する実験動画

Updated: Jan 18, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

508

多レベル計算解析による統合失調症ミスセンスSNPの同定：シナプス機能、神経免疫機能障害、抗精神病薬応答への影響

Fatimah M Coppin1, Michelle Kwon1, Ariya Bakhteri1

  • 1The City University of New York School of Medicine, Townsend Harris Hall, 1589 Amsterdam Ave, New York, NY 10031, United States of America.

Molecular and cellular neurosciences
|January 16, 2026
PubMed
まとめ

統合失調症（SCZ）に関連する遺伝的変異は、タンパク質の安定性と機能を損なう可能性があります。本研究では、神経伝達物質の放出、免疫調節、薬物代謝に影響を与える特定の遺伝子変異を同定し、SCZの病態生理に関する洞察を提供します。

キーワード:
バイオインフォマティクス計算解析GWASミスセンスSNP薬理遺伝学精密精神医学タンパク質安定性統合失調症治療標的

さらに関連する動画

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.4K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.4K

関連する実験動画

Last Updated: Jan 18, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

508
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.4K
Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.4K

科学分野:

  • 遺伝学
  • 神経科学
  • 薬理学

背景:

  • 統合失調症（SCZ）には重要な遺伝的要因がありますが、関連変異の機能的影響はよく理解されていません。
  • ゲノムワイド関連解析（GWAS）により、多数のSCZ関連一塩基多型（SNP）が同定されています。

研究 の 目的:

  • 計算により、重大な結果をもたらすSCZ関連ミスセンスSNPを同定し、機能的に分析すること。
  • これらの変異がSCZの病因に寄与する可能性のある分子メカニズムを調査すること。

主な方法:

  • NHGRI-EBI GWASカタログから得られた5083のSCZ関連ミスセンスSNPの解析。
  • 病原性予測、タンパク質安定性評価、構造解析、タンパク質間相互作用ネットワークの統合。
  • 高度に有害なミスセンス変異を持つ5つの遺伝子（STX2、BTN2A1、UGT1A8/9/10）の優先順位付け。

主要な成果:

  • STX2、BTN2A1、UGT1A8/9/10のミスセンス変異は、タンパク質の安定性を低下させると予測されました。
  • STX2変異は、神経伝達物質の放出と抗精神病薬の応答に影響を与えます。
  • BTN2A1変異はT細胞の調節に影響を与え、UGT1A8/9/10変異は薬物代謝を変化させる可能性があります。
  • タンパク質間相互作用解析により、変異とSCZに関連するシナプスシグナル伝達、免疫調節、異種生体物質代謝経路との関連が示されました。

結論:

  • STX2、BTN2A1、UGT1A8/9/10で同定された遺伝子変異は、SCZの病態生理の潜在的な分子メカニズムを提供します。
  • これらの発見は、統合失調症における将来の治療開発のための有望な標的として、特定の遺伝子と経路を強調しています。