In my study, I examined how genetic variants in the LZTR1, MAP2K1 and RAF1 genes influence the RAS-MAPK pathway, which is critical in the development of primary lymphedema. Primary lymphedema is a condition characterized by an abnormal accumulation of lymph in tissues, often caused by defects in genes involved in the regulation of lymphatic flow.
The analysis revealed that mutations in LZTR1, MAP2K1 and RAF1 alter the RAS-MAPK pathway, impairing lymphatic vessel function and leading to lymphedema. These findings suggest that the RAS-MAPK pathway plays a crucial role in the development of primary lymphedema.
This finding opens up new perspectives for the diagnosis and treatment of lymphedema, indicating that targeted interventions on the RAS-MAPK pathway could be effective in managing the disease.
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The article was published on PubMed on 2025-08-13 12:00:00
the original title is Genetic Variants in LZTR1, MAP2K1 and RAF1: Insights into the Role of RAS-MAPK Pathway in Primary Lymphedema
The authors of the article as they appear indicated are: The Belanovas and others
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