损坏的宏观自会使自闭症谱系障碍儿童面临智力障碍的重大风险
Ahrom Ham1, Audrey Yuen Chang1, Hongyu Li1
1Department of Neurology, Columbia University Irving Medical Center, New York, NY, 10032, USA.
Molecular psychiatry
|September 5, 2024
概括
自闭症谱系障碍 (ASD) 涉及受损的自,一个细胞过程,影响大脑功能,并可能在外围细胞中检测到. 这种细胞功能障碍与一些ASD个体的智力障碍相关.
科学领域:
- 神经科学是一个神经科学.
- 细胞生物学 细胞生物学
- 遗传学 遗传学 是一个
背景情况:
- 自闭症谱系障碍 (ASD) 是一种复杂的神经发育状况,原因不明.
- 细胞内质量控制,特别是自-溶酶体通路,与ASD病变发生有关.
- 以前的研究表明,ASD大脑中的自功能受损,并在小鼠模型中表现出相关的行为.
研究的目的:
- 调查ASD大脑中观察到的自变化是否也存在于外围细胞中.
- 探索外围细胞自作为ASD生物标志物的潜力.
- 检查自功能障碍与ASD智力障碍之间的关系.
主要方法:
- 从ASD和对照个体的淋巴细胞中评估了自活动.
- 分析了死后人类大脑和ASD小鼠模型中的自.
- 在小鼠大脑细胞中耗尽了Atg7基因,以研究认知效应.
主要成果:
- 自因诱导受损而受到ASD参与者的亚组的淋巴细胞损害.
- 在ASD大脑和小鼠模型的外围细胞中发现了类似的自缺陷.
- 在ASD中,自衰弱和智力障碍之间观察到强烈的相关性.
结论:
- 自功能障碍是ASD个体的一个子集中的融合机制.
- 淋巴细胞自可以作为分层ASD患者的外围生物标志物.
- 大脑细胞的自性缺陷在小鼠模型中导致认知障碍.
相关概念视频
Autism Spectrum Disorder
77
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
77
Intellectual Disability
45
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
45
Attention-Deficit/Hyperactivity Disorder
50
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by persistent inattention, hyperactivity, and impulsivity. It affects approximately 5-8% of children globally, with around 60-70% of cases persisting into adulthood. ADHD has significant implications for educational attainment, social interactions, and occupational success.
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
50
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Inborn Errors of Metabolism
146
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
146
Overview of Protein Metabolism
867
Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
867


