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SETD2 non genomic loss of function in advanced systemic mastocytosis is mediated by an Aurora kinase A/MDM2 axis and can be therapeutically targeted.

Author: ArockMichel, BonifacioMassimiliano, BrunoSamantha, CavoMichele, CriscuoloMarianna, De SantisSara, ManciniManuela, MonaldiCecilia, PaganoLivio, PapayannidisCristina, RondoniMichela, SartorChiara, SoveriniSimona, TosiPatrizia, ValentPeter, ZanottiRoberta

Journal ArticleAn article published in an academic or professional journal that reports original research or scholarly analysis.

Overview

This article discusses the tumor suppressor gene SETD2 and its role in systemic mastocytosis (SM). It reports that patients with advanced SM often have H3K36Me3 deficiency, which is linked to reduced SETD2 protein stability.
Paper Details　
Original Abstract of the Article :
The SETD2 tumor suppressor gene encodes a histone methyltransferase that safeguards transcription fidelity and genomic integrity via trimethylation of histone H3 lysine 36 (H3K36Me3). SETD2 loss of function has been observed in solid and hematologic malignancies. We have recently reported that most ...See full text at original site
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難解な医学論文を、専門知識のない方にも理解しやすいように、噛み砕いて説明することを目指しています。

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引用元：
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9999558/

データ提供：米国国立医学図書館（NLM）

SETD2: A Guardian of Genomic Integrity in Advanced Systemic Mastocytosis

The [SETD2 tumor suppressor gene] plays a crucial role in safeguarding genomic integrity. This study investigates the role of SETD2 in [advanced systemic mastocytosis (AdvSM)]. Much like a vigilant guardian protecting a desert oasis, SETD2 ensures the stability and proper functioning of our genetic material.

Unmasking the Role of SETD2 in Advanced Systemic Mastocytosis

The study reveals that [SETD2 loss of function] is commonly observed in [AdvSM] and [some with indolent or smoldering SM]. This loss of function is associated with a [reversible loss of SETD2 due to reduced protein stability]. Just as a desert oasis may face challenges from changing environmental conditions, the SETD2 gene can be impacted by various factors, leading to potential disruptions in genomic integrity.

Understanding the Mechanisms of Advanced Systemic Mastocytosis

The study sheds light on the complex mechanisms underlying [AdvSM], identifying a potential therapeutic target in the [Aurora kinase A/MDM2 axis]. By understanding these mechanisms, we can develop more effective treatments to address the challenges of AdvSM, creating a more hopeful desert landscape for individuals living with this disease.

Dr.Camel's Conclusion

This study provides crucial insights into the role of SETD2 in advanced systemic mastocytosis. By understanding the mechanisms of SETD2 loss of function and identifying potential therapeutic targets, we can develop more effective treatments and improve the lives of individuals living with this disease.

Date :
  1. Date Completed n.d.
  2. Date Revised 2023-03-12
Further Info :

Pubmed ID

36894973

DOI: Digital Object Identifier

PMC9999558

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Languages

English

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