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The Ras Gene02:38

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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.
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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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Recent advances in RASopathies.

Yoko Aoki1, Tetsuya Niihori1, Shin-ichi Inoue1

  • 1Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.

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RASopathies are genetic syndromes caused by RAS/MAPK pathway mutations. Recent discoveries of new gene variants expand understanding of these disorders and may lead to new therapies.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Medicine

Background:

  • RASopathies, or RAS/mitogen-activated protein kinase (MAPK) syndromes, are a group of disorders with overlapping phenotypes.
  • These conditions arise from germline mutations affecting the RAS/MAPK signaling pathway.
  • Known RASopathies include neurofibromatosis type I, Noonan syndrome, and Costello syndrome, among others.

Purpose of the Study:

  • To review recently identified genes associated with RASopathies.
  • To enhance the understanding of the pathogenesis of these complex genetic disorders.
  • To highlight potential cardiovascular abnormalities in individuals with RASopathies.

Main Methods:

  • Literature review of recent genetic discoveries in RASopathies.
  • Synthesis of information on novel gene variants and their clinical implications.
  • Focus on cardiovascular manifestations reported in affected individuals.

Main Results:

  • Several novel gene variants (RIT1, RRAS, RASA2, A2ML1, SOS2, LZTR1) have been linked to RASopathies.
  • These findings broaden the spectrum of genetic causes for these syndromes.
  • Cardiovascular abnormalities are a significant feature in many RASopathies.

Conclusions:

  • The identification of new genes advances the understanding of RAS/MAPK pathway disorders.
  • Further research into these novel variants is crucial for elucidating pathogenesis.
  • This knowledge will aid in developing targeted therapeutic strategies for RASopathies.