SCN3Bエンコーディングナブチャネルサブユニットβ3のバイアレル縮小変異は,とアタキシアの有無で神経発達のフェノタイプにつながる.
Contact us if these videos are not relevant.
Contact us if these videos are not relevant.
PubMedで要約を見る
まとめ
この要約は機械生成です。NAVチャネルβ3サブユニットをコードするSCN3Bの変異は,神経発達障害 (NDD) と関連しています. この研究は,パキスタンの家庭で知的障害,自閉症,発作を引き起こすSCN3Bの変種を特定しました.
科学分野
- 神経科学
- 遺伝学
- チャネル病
背景
- SCN3Bは,チャネル機能に不可欠な電圧ゲートナトリウム (Nav) チャネルのβ-3補助サブユニットをコードします.
- SCN3Bの神経発達障害 (NDD) に関する役割は以前は確立されていなかった.
研究 の 目的
- SCN3B変異とNDDの潜在的な関連性を調査する.
- 新しいSCN3B変異の臨床的および電気生理学的結果を特徴付ける.
主な方法
- パキスタンの親族のゲノタイプ第一アプローチ
- 同位体断片型SCN3Bの識別と分離分析
- NAVチャネルのサブタイプに関する電気生理学的研究
主要な成果
- 2つのファミリーで同同位体の断片型SCN3B変種 (β3W94*とβ3S196*) が確認された.
- 影響を受けた個人は,全体的な発達遅延,知的障害,自閉症,アタクシア,発作を呈した.
- 電気生理学では 複数の脳内ナビチャンネルサブタイプが 変化していることが分かりました
結論
- この研究は,SCN3B変異とNDDとの間の最初の遺伝的リンクを確立しました.
- SCN3Bの変異は神経発達現象のスペクトルに寄与する.
- この発見により,Navチャネル病と 脳機能への影響の理解が広がった.
関連する概念動画
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%...
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
Overview
A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.
Pedigrees Display Family Histories
In various plant and...
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...