相关实验视频
Updated: Jun 28, 2025
12:10
Retzius-Sparing Robot-Assisted Radical Prostatectomy
Published on: May 19, 2022
7.7K
在不育男性中未被诊断的RAS病变
Anna-Grete Juchnewitsch1, Kristjan Pomm2, Avirup Dutta1
1Chair of Human Genetics, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia.
Frontiers in endocrinology
|April 24, 2024
概括
影响Ras/MAPK通路的遗传性疾病RASopathies是男性不孕症的一个新发现的原因. 这些情况在患有密封性和精子生成失败的男性中尤为普遍,需要进一步调查.
科学领域:
- 遗传学 遗传学 是一个
- 内分泌学 在内分泌学.
- 生殖医学 生殖医学
背景情况:
- 拉索病症是与Ras/mitogen激活蛋白激酶 (MAPK) 途径相关的先天性综合征,大约影响1000人中的1人.
- 密封性 (CR) 是RASopathy患者的常见特征,与精子生成失败 (SPGF) 有关,这是男性不孕症的主要原因.
- 这种重叠表明,寻求不育管理的男性可能包括未被诊断的RASopathy病例.
研究的目的:
- 调查与RASopathy相关的基因中可能的致病性或致病性 (LP/P) 变异的流行率在异常性精子发生失败的男性中.
- 为了确定未被诊断的RAS病症是否会导致男性不孕,特别是在有密码体病史的病例中.
- 评估已确定RASopathy基因变异的不育男性的临床表现和相关健康问题.
主要方法:
- 对521名患有异常性SPGF的男性 (包括155名CR) 和来自ESTonian ANDrology (ESTAND) 队列的323名常态精子对照进行了外序列测序.
- 应用了RASopathy特定变体解释指南来评估病原性.
- 这些发现在男性不孕症倡议 (GEMINI) 的遗传学队列中得到了验证,包括1,416例SPGF病例和317名肥沃男性.
主要成果:
- 与RASopathy相关基因的LP/P变异在3.9%的CR和SPGF男性中被发现,与对照组相比 (0.3%) 有显著的丰富.
- 总的来说,这两个队伍中的17名受试者被诊断为未诊断的RASopathies,主要是在SPGF患者中 (15例,10例CR).
- 所有受影响的个体都呈现出先天性泌尿生殖系统异常,骨/关节疾病以及其他与RASopathy相关的问题,包括四例罕见恶性瘤.
结论:
- 拉斯/MAPK通路基因的先天性缺陷代表了男性不孕症综合征的新型遗传病因.
- 未被诊断的RAS病变在具有密码性病史的不育男性中显著增加.
- 被诊断为RASopathies的不育男性需要对相关的先天性异常,骨状况和潜在的恶性瘤进行全面评估.
相关概念视频
02:38The Ras Gene
6.2K
The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...
Ras is a...
6.2K
01:23Infertility in Males
260
Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...
260
01:20Disorders of the Male Reproductive System
400
Men's health issues are increasingly recognized as significant, with several conditions posing common threats. Among these, testicular cancer is especially prevalent in younger men, particularly those aged 20 to 35 years. The disease often manifests as a painless mass in the testicles, sometimes accompanied by a sensation of heaviness or a dull ache.
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
Prostate disorders are another major concern. These conditions can impair urinary flow due to the prostate's location around the urethra....
400