与COL4A2相关的疾病在成年时呈现与狂肌分裂
Bukola A Olarewaju1, Judy Tejon2, Shaymaa Shurrab3
1School of Science and Engineering, University of Dundee, Dundee, UK.
American journal of medical genetics. Part A
|December 16, 2024
概括
这项研究报告了 COL4A2 基因变异的成年人患有拉布地质溶解,扩大了已知的 COL4A2 相关疾病的临床谱,超出了脑形,包括肌肉损伤.
科学领域:
- 遗传学和分子生物学
- 神经学 神经学
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- COL4A1和COL4A2基因编码了对血管底层膜至关重要的IV型原链.
- COL4A1/COL4A2中的致病变体与具有多种神经表现的自体主导性脑血管病变有关.
- 虽然COL4A1变异与儿童的狂犬病相关,但在人类的COL4A2相关疾病中没有报告这种并发症.
研究的目的:
- 报告 COL4A2 相关结构性大脑形的成年人患有拉布地质溶解病例.
- 为了研究 COL4A2 变体与肌肉平衡障碍之间的潜在联系.
- 扩大对与 COL4A2 基因突变相关的多系统表型的理解.
主要方法:
- 一个成年患者的临床病例报告.
- 对 COL4A1 和 COL4A2 基因中遗传变异的审查.
- 分析临床表现,包括结构性大脑形和狂犬病.
主要成果:
- 这项研究呈现了一个成年人患有多微症和异质症的拉布多溶解病例,与COL4A2基因变异有关.
- 这一发现表明,拉布地质溶解可能是成年人中COL4A2相关疾病的表现.
- 它挑战了以前的理解,即拉布多米解主要与年轻患者的COL4A1变体有关.
结论:
- 在对COL4A2相关疾病的差异诊断中,即使在成年人中,也应该考虑结核分裂.
- 这一案例凸显了多系统参与COL4A2相关疾病的潜力,影响大脑和肌肉.
- 需要进一步的研究,以阐明COL4A2相关疾病中肌肉平衡中断背后的机制.
更多相关视频
09:37A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
8.2K
07:35Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring
Published on: June 23, 2015
11.5K
相关概念视频
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
Disorders of the Skeletal Muscle
871
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
871
Overview of Protein Metabolism
723
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...
723
Amyloid Fibrils
9.2K
Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
9.2K
Smooth Endoplasmic Reticulum
5.6K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.6K
Inborn Errors of Metabolism
127
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...
127
