Melody C. Carter, a leading researcher at NIH, shares pivotal insights into the genetic variant KIT M541L and its connection to mastocytosis. This variant may significantly influence the severity of the disease, which leads to an overproduction of mast cells in the body. Carter discusses the implications of this research on understanding mastocytosis and highlights how it could pave the way for personalized treatments. Tune in to learn about the fascinating intersection of genetics and immune disorders!
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insights INSIGHT
KIT M541L and Mastocytosis Severity
The KIT M541L genetic variant may contribute to mastocytosis severity.
Patients with two copies of the variant are almost five times more likely to have systemic mastocytosis.
insights INSIGHT
KIT M541L and Systemic Mastocytosis Risk
The study confirms a link between KIT M541L and systemic mastocytosis.
Especially when inherited in homozygous form, it significantly raises the risk.
volunteer_activism ADVICE
Genetic Testing for Personalized Treatment
Consider genetic testing for the KIT M541L mutation for personalized treatment.
Patients with this mutation might respond differently to mast cell therapies.
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Scientists have discovered that a genetic variant called KIT M541L may play an important role in a rare immune disorder known as #mastocytosis. The findings may help explain why some #patients develop more severe forms of the disease.
Understanding Mastocytosis
Mastocytosis is a condition where the body produces too many mast cells. These cells are part of the immune system and help the body fight infections, but in excess, they release chemicals that can cause itching, swelling, and even serious organ damage.
There are two main types of mastocytosis. The first is cutaneous mastocytosis, which mostly affects the skin. The second is systemic mastocytosis, a more serious form where mast cells build up in internal organs like the liver, spleen, and bone marrow.
The disease is linked to mutations in the KIT gene, which regulates mast cell growth. The most studied mutation is KIT D816V, but recent research has highlighted another variant, KIT M541L.
The Study: Impact of KIT M541L Variant
A team of researchers at the National Institutes of Health (NIH), led by first author Luisa N. Dominguez Aldama and corresponding author Melody C. Carter, aimed to better understand the prevalence and impact of the KIT M541L genetic variant in mastocytosis patients. The study published in Oncotarget on July 22, 2024, titled “Prevalence and impact of the KIT M541L variant in patients with mastocytosis,” examined the presence of the KIT M541L gene variant in 100 patients with mastocytosis, both adults and children, alongside 500 healthy individuals.
By comparing these two groups, the researchers wanted to see if there was a relation between the KIT M541L variant and mastocytosis severity.
Full blog - https://www.oncotarget.org/2025/01/15/mastocytosis-key-insights-into-kit-m541l-gene-mutation/
Paper DOI - https://doi.org/10.18632/oncotarget.28614
Correspondence to - Melody C. Carter - mcarter@niaid.nih.gov
Video short - https://www.youtube.com/watch?v=zpiBbSfkTX4
Sign up for free Altmetric alerts about this article - https://oncotarget.altmetric.com/details/email_updates?id=10.18632%2Foncotarget.28614
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Keywords - cancer, mastocytosis, KIT M541L, KIT D816V, adults, pediatrics
About Oncotarget
Oncotarget (a primarily oncology-focused, peer-reviewed, open access journal) aims to maximize research impact through insightful peer-review; eliminate borders between specialties by linking different fields of oncology, cancer research and biomedical sciences; and foster application of basic and clinical science.
Oncotarget is indexed and archived by PubMed/Medline, PubMed Central, Scopus, EMBASE, META (Chan Zuckerberg Initiative) (2018-2022), and Dimensions (Digital Science).
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