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Related Concept Videos

Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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...
Cancer-Critical Genes I: Proto-oncogenes01:33

Cancer-Critical Genes I: Proto-oncogenes

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...
The Ras Gene02:38

The Ras Gene

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 superfamily...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

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...

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Related Experiment Video

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Novel PRKAR1A gene mutations in Carney Complex.

Lorraine Pan1, Lan Peng, J Jean-Gilles

  • 1Department of Pathology, New York University School of Medicine, NY, New York 10010, USA.

International Journal of Clinical and Experimental Pathology
|July 8, 2010
PubMed
Summary

Carney complex, a genetic disorder, can involve heart and skin tumors. Researchers identified a novel PRKAR1A gene mutation in a patient, suggesting new pathways in tumor development.

Keywords:
Carney complexPRKAR1mutationmyxomas

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Published on: August 25, 2023

Area of Science:

  • Genetics
  • Oncology
  • Dermatology

Background:

  • Carney complex is an autosomal dominant syndrome characterized by myxomas, lentigines, and endocrine tumors.
  • Genetic studies have linked Carney complex to mutations in the PRKAR1A gene, often resulting in a truncated protein product.
  • Understanding the genetic basis of Carney complex is crucial for diagnosis and therapeutic strategies.

Observation:

  • A 57-year-old male presented with multiple skin lesions and cardiac myxomas, indicative of Carney complex.
  • Histopathological examination confirmed lentiginous melanocytic hyperplasia and cutaneous myxomas.
  • Genetic sequencing of lesional and normal tissue revealed a novel germline missense mutation in the PRKAR1A gene.

Findings:

  • The identified mutation is a missense mutation located in exon 1A of the PRKAR1A gene.
  • This represents a novel genetic alteration associated with Carney complex.
  • It is one of the few reported missense mutations linked to this syndrome.

Implications:

  • This discovery expands the spectrum of known PRKAR1A mutations in Carney complex.
  • It suggests that altered protein kinase A 1-alpha subunit function, even without truncation, can contribute to tumorigenesis.
  • Further research into these alternative mechanisms may reveal new therapeutic targets for Carney complex and other related neoplasms.