相关实验视频
Updated: Jan 16, 2026

07:59
Functional Characterization of Endogenously Expressed Human RYR1 Variants
Published on: June 9, 2021
3.0K
由于新型TRPM6突变而导致的二次低血症的低磁血症
Vykuntaraju K Gowda1, Rajesh R N2, Uddhava V Kinhal3
1Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India drknvraju08@gmail.com.
BMJ case reports
|September 26, 2025
概括
一个罕见的遗传性疾病,二次性低血症的低磁血症,在婴儿中被鉴定出由于新型TRPM6基因突变. 用和补充剂迅速治疗导致发作解决和正常发育.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 生物化学 生化学
背景情况:
- 二次性低血症的低磁血症是一种罕见的遗传性疾病.
- 它的特点是和水平较低,通常是由TRPM6基因突变引起的.
研究的目的:
- 在婴儿中报告一种新型TRPM6突变的病例,该突变会导致低磁血和二次低血.
- 描述这种罕见疾病的临床表现,遗传发现和治疗方法.
主要方法:
- 一个患有发作的婴儿的临床病例呈现.
- 生物化学研究包括血清,,维生素D和副甲状腺激素水平.
- 基因分析使用外体测序和桑格测序来识别TRPM6基因中的突变.
- 在分析和蛋白质建模,以评估发现的突变的致病性.
主要成果:
- 婴儿出现了发作,严重的低磁血和低血.
- 外基因序列测定揭示了TRPM6基因中的一种新型同卵性框架内删除突变 (c.1550_1552delTAG, p.(Val517del)).
- 这种突变在婴儿中被证实是新的,对蛋白质功能有害.
- 用静脉和口服和补充剂治疗导致停止和神经发育正常.
结论:
- 这一案例突出了一个新的TRPM6突变,导致婴儿罕见的遗传疾病.
- 早期诊断和适当的补充剂对于管理二次低血症的低磁血症至关重要.
- 在这种情况下,基因分析对于确定潜在原因和指导治疗至关重要.
更多相关视频
相关概念视频
Skeleton and Calcium Homeostasis
5.8K
Calcium is not only the most abundant mineral in bone but also the most abundant mineral in the human body. Calcium ions are needed for bone mineralization, tooth health, heart rate regulation and strength of contraction, blood coagulation, the contraction of smooth and skeletal muscle cells, and the regulation of nerve impulse conduction. The average calcium level in the blood is about 10 mg/dL. When the body cannot maintain this level, a person will experience hypo or hypercalcemia.
5.8K
Calmodulin-dependent Signaling
6.0K
Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...
6.0K
Cardiomyopathy III: Hypertrophic Cardiomyopathy
411
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
411
Hormones and Bone Tissue
3.7K
The endocrine system produces and secretes hormones, which interact with the skeletal system. These hormones control bone growth, maintain bone once it is formed, and remodel it.
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
3.7K
Introduction to Electrolytes
15.1K
In humans, electrolytes play a vital role in various physiological processes. Balancing electrolyte levels is essential for normal body functions; their imbalance can be life-threatening. The major electrolytes include sodium, potassium, chloride, calcium, phosphate, and bicarbonate. They are primarily involved in physiological processes, such as nerve signal transmission, membrane trafficking, muscle contraction, buffering body fluids, and balancing water levels in the body.
Role of Sodium
One...
Role of Sodium
One...
15.1K

