在被诊断患有自闭症谱系障碍的女孩中,类固醇生成途径
Katarina Jansakova1, Martin Hill2, Hana Celusakova1
1Institute of Physiology, Faculty of Medicine, Comenius University in Bratislava, Bratislava, Slovak Republic.
PloS one
|December 5, 2024
概括
女孩的自闭症谱系障碍 (ASD) 显示了类固醇激素水平的改变,特别是高GABAergic和孕醇硫酸盐. 这表明ASD女性的类固醇生成途径的潜在差异.
科学领域:
- 神经内分泌学神经内分泌学
- 发育神经科学的发展神经科学.
- 生物化学 生物化学
背景情况:
- 自闭症谱系障碍 (ASD) 诊断在男孩中更为普遍,导致女孩在研究中的代表性不足.
- 类固醇生成途径对神经发育至关重要,但它们在女性ASD中的作用仍未得到充分研究.
研究的目的:
- 研究与神经类型对照对象相比,青春期前女孩患有ASD的类固醇生成途径内的类固醇激素水平的差异.
- 探索雌性ASD中类固醇代谢和酶活性的潜在变化.
主要方法:
- 在16名患有自闭症的青春期前女孩和16名年龄/性别匹配的神经类型对照的血样本中对结合性和非结合性类固醇的分析.
- 利用气相色谱-双重质谱测量用于精确的类固醇量化.
主要成果:
- 在患有自闭症的女孩中观察到高水平的GABAergic类固醇和孕醇硫酸.
- 在ASD组中发现了更高度的孕,其异构体,极性孕和硫酸安德罗斯坦.
- 在ASD女孩中,类固醇产品与前体的比率表明硫转移酶增加或降低类固醇硫酶活性,并可能降低类固醇11β-基酶活性.
结论:
- 与神经型女孩相比,患有自闭症的青春期前女孩在类固醇生成途径中表现出明显的改变.
- 研究结果表明,女性ASD的类固醇代谢,包括硫化和化,可能存在差异.
- 需要进一步跨性别和年龄组的研究来验证和概括这些发现.
相关概念视频
Autism Spectrum Disorder
61
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.
61
Signs of Puberty
246
Puberty is a critical phase, typically beginning between the ages of 8 and 13 in girls and 9 and 14 in boys, though timing can vary based on genetics, environmental factors, and overall health. This period is characterized by the development of secondary sexual characteristics and the attainment of reproductive potential. Endocrine changes underpin puberty, with hormonal surges of Luteinizing Hormone (LH) and Follicle-Stimulating Hormone (FSH) instigated by Gonadotropin-Releasing Hormone (GnRH)...
246
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
453
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...
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...
453
mTOR Signaling and Cancer Progression
3.7K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
3.7K
iPS Cell Differentiation
2.6K
The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
2.6K
The Ratio of X Chromosome to Autosomes
8.4K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
8.4K


