猫类维生素D依赖性狂犬病2型是由维生素D受体基因的错误变异引起的
Sora Suzuki1, Hitomi Masuyama1, Jiro Miyamae1
1Laboratory of Immunology, Faculty of Veterinary Medicine, Okayama University of Science, Ehime, Japan.
The Journal of veterinary medical science
|October 13, 2025
概括
一只被诊断患有维生素D依赖性狂犬病类型2的小猫由于维生素D受体 (VDR) 基因变异而表现出和下问题. 基因检测证实了诊断,突出了猫类狂犬病中的VDR功能障碍.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 兽医医学 兽医医学 兽医医学
背景情况:
- 维生素D对于平衡和骨健康至关重要.
- 维生素D依赖性狂犬病2型 (VDDR2) 是一种罕见的遗传疾病,由维生素D受体 (VDR) 基因突变引起.
- VDDR2的临床症状包括恶心病,低血症和二次性副甲状腺功能障碍症.
研究的目的:
- 为了研究一只小猫腿和部异常的遗传基础.
- 在猫科动物患者中诊断维生素D依赖的2型.
- 描述已识别的VDR变体的功能影响.
主要方法:
- 临床评估,生物化学分析 (血清,PTH,1,25(OH) 2D3) 和放射性成像.
- 在VDR基因的基因测序.
- 在分析和体外功能测定使用VDR缺陷细胞.
主要成果:
- 小猫出现了,无法闭上嘴巴,低血症和骨质疏松症.
- 基因分析揭示了三种VDR基因变异,包括一种潜在的有害误解变异 (p.Pro170Leu).
- 实验室研究证实,鉴定到的变体导致VDR功能受损,导致对1,25(OH) 2D3.3的响应能力降低.
结论:
- 这只小猫被诊断出患有维生素D依赖性狂犬病2型.
- 在这种猫类病例中,VDR基因中的遗传变异是导致VDDR2的原因.
- 这项研究强调了基因测试对于诊断动物罕见代谢性骨病的重要性.
相关概念视频
01:43Incomplete Dominance
29.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
29.6K
01:31Translation
155.3K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
155.3K
01:31Translation
17.5K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
Translation Produces the Building Blocks of Life
Proteins are...
17.5K
01:58X-Inactivation
41.5K
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
41.5K
02:41Lethal Alleles
17.7K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
17.7K
01:23Role of Skin in Vitamin D Synthesis
7.5K
The skin plays a crucial role in the synthesis of vitamin D, a vital nutrient for various physiological processes in the body. Vitamin D is unique because it can be synthesized in the skin through a series of chemical reactions triggered by exposure to ultraviolet B (UVB) radiation from sunlight.
The solar UV B rays (290-315 nm) are absorbed by the skin, and 7-dehydrocholesterol (provitamin D3) photolyzes it to previtamin D3, which undergoes a rapid transformation to vitamin...
The solar UV B rays (290-315 nm) are absorbed by the skin, and 7-dehydrocholesterol (provitamin D3) photolyzes it to previtamin D3, which undergoes a rapid transformation to vitamin...
7.5K