扩大新生儿发作的AIFM1相关疾病的范围
Alberto A Zambon1,2, Daniele Ghezzi3,4, Cristina Baldoli5
1Unit of Neurology, San Raffaele Scientific Institute, Milan, Italy.
Annals of clinical and translational neurology
|August 30, 2023
概括
在AIFM1基因的致病变体可以导致严重的神经疾病. 这项研究确定了一种与AIFM1相关的新型表型,呈现出新生儿发作和脑部胀,扩大了已知的AIFM1相关疾病的范围.
科学领域:
- 遗传学 遗传学 是一个
- 神经科学是一个神经科学.
- 线粒体生物学 线粒体生物学
背景情况:
- 诱导亡因子线粒体 (AIFM1) 基因中的致病变体与各种疾病有关,包括Charcot-Marie-Tooth病4X型 (CMT4X) 和线粒体脑病变.
- 与AIFM1相关的疾病的表型谱很广泛,包括神经和肌肉疾病.
研究的目的:
- 呈现与AIFM1变体相关的新型表型.
- 审查和扩大对AIFM1相关疾病的临床表现的理解.
主要方法:
- 脑电图 (EEG),大脑磁共振成像 (MRI) 和磁共振光谱学 (MRS).
- 代谢查,心声回声和临床外体序列测序 (CES).
- 对患者衍生培养纤维细胞的功能研究,以评估AIFM1蛋白水平和线粒体呼吸链复杂活动.
主要成果:
- 一名患者出现了严重的新生儿和脑部胀,与新型AIFM1变种 (c.5T>C; p.
- 功能性研究显示AIFM1蛋白减少和线粒体呼吸链复合体I,III和IV受损.
- 患者在6个月时表现出小头,但在没有进一步的神经恶化或肌肉衰弱的情况下稳定.
结论:
- 这一案例代表了第一个与AIFM1相关的疾病,呈现出新生儿发作和扩散白质异常.
- 这些发现突出了与AIFM1变异相关的新型神经现象,与之前报告的肌病或运动神经元疾病表现不同.
- 这扩大了新生儿发作的和脑病变的诊断考虑范围.
更多相关视频
相关概念视频
01:19Autism Spectrum Disorder
139
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.
139
01:29Intellectual Disability
93
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...
93
01:43Sex-linked Disorders
102.3K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.3K