心脏瘤的遗传学:一个叙事审查
1Department of Clinical Pharmacy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia.
Heart, lung & circulation
|December 31, 2023
概括
遗传突变与各种心脏瘤有关,影响其表现和预后. 了解这些遗传联系对于准确诊断,个性化管理和改善心脏瘤患者的治疗结果至关重要.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 心脏瘤可能与特定的遗传综合征有关,如结核性硬化症 (狂宫瘤),卡尼综合征 (肌瘤),戈林综合征 (纤维瘤) 和多发性内分泌瘤综合征 (偏膜瘤).
- 心脏瘤的临床表现,预后和治疗通常在综合征和零星病例之间存在显著差异.
- 识别心脏外表现和相关综合征的遗传特征对于全面的患者护理至关重要.
研究的目的:
- 审查与心脏瘤相关的遗传异常.
- 讨论目前对心脏瘤患者的遗传查建议.
- 探索遗传突变对心脏瘤结果的影响.
主要方法:
- 对遗传综合征和心脏瘤研究的文献综述.
- 对良性和恶性心脏瘤中的遗传突变进行分析.
- 检查当前遗传查指南及其临床相关性.
主要成果:
- 特定的遗传综合征与不同类型的心脏瘤有关.
- 遗传突变在心脏瘤的个性化管理和治疗中发挥着作用.
- 了解遗传特征可以提高诊断准确度和预后预测.
结论:
- 遗传因素显著影响心脏瘤的发展,表现和结果.
- 基于遗传发现的个性化管理策略对于优化治疗至关重要.
- 需要对基因突变进行进一步的研究,以加强对心脏瘤的治疗方法.
相关概念视频
Cancer-Critical Genes I: Proto-oncogenes
8.9K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
8.9K
Cancer-Critical Genes II: Tumor Suppressor Genes
7.4K
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
7.4K
Adaptive Mechanisms in Cancer Cells
5.8K
Cancer cells accumulate genetic changes at an abnormally rapid rate due to the defects in the DNA repair mechanisms. From an evolutionary perspective, such genetic instability is advantageous for cancer development. Mutant cell lines accumulate a series of beneficial mutations that contribute to their progression into cancer.
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
5.8K
Cancers Originate from Somatic Mutations in a Single Cell
11.9K
Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
11.9K
mTOR Signaling and Cancer Progression
3.8K
The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...
The mTOR pathway or the...
3.8K
Loss of Tumor Suppressor Gene Functions
4.8K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
4.8K


