What exactly is ITGBL1 methylation, and how does it relate to acute myeloid leukemia (AML)?

ITGBL1 methylation refers to the addition of a methyl group to the ITGBL1 gene, which is involved in cell adhesion and interactions with the extracellular matrix. In AML, increased methylation of ITGBL1 is associated with reduced gene expression. This abnormal methylation pattern can disrupt normal cellular processes, potentially contributing to disease progression. The study found that higher ITGBL1 methylation levels correlated with poorer clinical outcomes, such as shorter overall survival and leukemia-free survival, indicating its relevance in AML prognosis.

How was ITGBL1 methylation measured in the AML study, and what were the key findings regarding its levels in AML patients versus healthy individuals?

In the AML study, ITGBL1 methylation was detected using real-time methylation-specific polymerase chain reaction (RQ-MSP) and bisulfite sequencing PCR (BSP) on bone marrow samples. The key finding was that ITGBL1 methylation levels were significantly higher in AML patients compared to healthy controls. This indicates that ITGBL1 is frequently hypermethylated in AML, suggesting its potential as a biomarker for the disease. Further analysis showed a negative correlation between ITGBL1 methylation and ITGBL1 expression, meaning higher methylation levels were associated with lower ITGBL1 transcript levels.

What clinical outcomes are associated with ITGBL1 hypermethylation in AML patients, and why is this significant for predicting disease progression?

ITGBL1 hypermethylation in AML patients is associated with several adverse clinical outcomes. Patients with higher ITGBL1 methylation levels tend to have higher bone marrow blast counts and lower complete remission rates. More critically, these patients also exhibit significantly shorter overall survival (OS) and leukemia-free survival (LFS). These findings suggest that ITGBL1 methylation is a strong indicator of disease severity and poorer prognosis in AML, making it significant for predicting disease progression and potentially guiding treatment decisions. Further research is needed to fully understand how ITGBL1 methylation affects AML progression, which may lead to targeted therapies that reverse ITGBL1 methylation.

Besides prognosis, what other clinical implications does ITGBL1 methylation have for managing AML, and what future research directions are planned?

Beyond predicting prognosis, ITGBL1 methylation has potential implications for monitoring disease status in AML patients. The study showed that ITGBL1 methylation levels decreased in patients who achieved complete remission after induction therapy, suggesting it could be used to track treatment response. Future research aims to validate these findings in larger patient groups and explore the mechanisms by which ITGBL1 methylation affects AML progression. This could lead to targeted therapies designed to reverse ITGBL1 methylation, improving outcomes for AML patients. Additionally, ITGBL1 methylation status could be used to stratify patients for different treatment approaches, personalizing therapy based on individual risk profiles.

How does ITGBL1 methylation affect ITGBL1 gene expression, and what are the implications of this relationship for AML?

ITGBL1 methylation negatively correlates with ITGBL1 expression; higher methylation levels are associated with lower ITGBL1 transcript levels. This means that when the ITGBL1 gene is more methylated, less of the ITGBL1 protein is produced. Since ITGBL1 is involved in cell adhesion and interactions with the extracellular matrix, reduced ITGBL1 expression can disrupt normal cellular functions, potentially contributing to AML progression. Restoring ITGBL1 expression through demethylation could be a potential therapeutic strategy. The study also found that demethylation of ITGBL1 could increase the ITGBL1 expression in the K562 leukemic cell line.

DNA strand with methylation marks over bone marrow cells.

ITGBL1 Methylation: A New Key to Understanding AML Prognosis?

Rhea Morgan in Health & Wellness December 2025 • 5 min read.

"Research uncovers how ITGBL1 methylation impacts acute myeloid leukemia, offering potential for improved risk assessment and treatment monitoring."

Acute myeloid leukemia (AML) is a type of cancer affecting the blood and bone marrow, characterized by the rapid growth of abnormal white blood cells. While treatments have improved, predicting how the disease will progress in individual patients remains a challenge. Doctors rely on various factors, including genetic mutations and cytogenetic abnormalities, to assess risk and tailor therapy.

In the relentless quest to understand and combat AML, researchers are constantly exploring new molecular markers that could offer insights into disease behavior. One such area of interest is DNA methylation, a process that can alter gene expression without changing the underlying DNA sequence. Aberrant DNA methylation patterns have been linked to various cancers, including AML, making them a potential target for diagnostic and therapeutic interventions.

A recent study has focused on the role of ITGBL1 (integrin beta-like 1) methylation in AML. ITGBL1 is a gene involved in cell adhesion and interactions with the extracellular matrix. The study, published in the Journal of Cellular Physiology, investigates how methylation of the ITGBL1 gene affects the prognosis of AML patients, potentially opening new avenues for risk stratification and treatment monitoring.

What is ITGBL1 Methylation and Why Does It Matter in AML?

DNA strand with methylation marks over bone marrow cells.

Methylation is a chemical modification that occurs when a methyl group (CH3) is added to a DNA molecule. This process can affect gene expression, typically leading to gene silencing. In cancer, abnormal methylation patterns can disrupt the normal function of genes involved in cell growth, differentiation, and apoptosis. ITGBL1, or integrin beta-like 1, is a gene that encodes a protein related to integrins, which are involved in cell adhesion and interactions with the surrounding environment. The ITGBL1 protein contains multiple epidermal growth factor (EGF)-like domains and plays a role in cell-matrix interactions.

The study aimed to investigate the methylation pattern of the ITGBL1 gene in patients with AML and its clinical relevance. Researchers analyzed bone marrow samples from 131 newly diagnosed AML patients and 29 healthy controls. They used real-time methylation-specific polymerase chain reaction (RQ-MSP) and bisulfite sequencing PCR (BSP) to detect methylation in the ITGBL1 promoter region. Additionally, they performed real-time quantitative PCR (RT-qPCR) to measure ITGBL1 transcript levels.

Higher Methylation in AML Patients: The study found that ITGBL1 methylation levels were significantly higher in AML patients compared to healthy controls, indicating that ITGBL1 is frequently hypermethylated in AML.
Correlation with Clinical Outcomes: ITGBL1-hypermethylated patients tended to have higher bone marrow blast counts and lower complete remission rates, suggesting a link between ITGBL1 methylation and disease severity.
Impact on Survival: ITGBL1-hypermethylated patients had significantly shorter overall survival (OS) and leukemia-free survival (LFS) compared to those with lower ITGBL1 methylation levels. This finding suggests that ITGBL1 methylation is associated with a poorer prognosis in AML.

The researchers also found that ITGBL1 methylation levels decreased in AML patients who achieved complete remission after induction therapy. Moreover, ITGBL1 methylation was negatively correlated with ITGBL1 expression, meaning that higher methylation levels were associated with lower ITGBL1 transcript levels. Demethylation of ITGBL1 could increase the ITGBL1 expression in the K562 leukemic cell line. These results indicate that ITGBL1 methylation can affect gene expression and disease progression in AML.

Future Directions and Clinical Implications

This research suggests that ITGBL1 hypermethylation is a potential biomarker for predicting prognosis and monitoring disease status in patients with AML. Further studies are needed to validate these findings in larger patient cohorts and to investigate the underlying mechanisms by which ITGBL1 methylation affects AML progression. Understanding these mechanisms could lead to the development of targeted therapies to reverse ITGBL1 methylation and improve outcomes for AML patients. Future research could also explore the potential of using ITGBL1 methylation status to stratify patients for different treatment approaches, personalizing therapy based on individual risk profiles.