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Exciting NIH Grant Award Announcement for TANGO2 Deficiency Disorder Research

By January 27, 2025No Comments

We are excited to share that Dr. Christina Miyake, a T2RF clinical research collaborator from Baylor College of Medicine has received a prestigious grant from the National Heart, Lung, and Blood Institute (NHLBI), a division of the National Institutes of Health (NIH), to advance research on TANGO2 Deficiency Disorder (TDD). This critical funding will support innovative studies on the mechanisms underlying life-threatening arrhythmias in TDD patients and explore the therapeutic potential of vitamin B9 (folate) supplementation.  

Some with TANGO2 Deficiency Disorder experience recurrent metabolic crises and severe ventricular arrhythmias. These arrhythmias often result in cardiac arrest and have a high mortality rate, as they are resistant to standard antiarrhythmic treatments. Dr. Miyake’s research aims to tackle these urgent challenges and provide vital insights that could save lives and improve outcomes for patients and families affected by TDD.  

Why This Research Matters

The exact functional role of the TANGO2 protein remains unclear despite ongoing research. However, recent findings from an international TDD natural history study indicate that B-vitamin supplementation may help prevent and treat life-threatening arrhythmias associated with TDD. While this discovery is promising, the mechanisms behind the effectiveness of B-vitamins are not yet understood. This grant will enable the research team to investigate these mechanisms and develop targeted therapies aimed at improving outcomes for individuals affected by TDD.

Research Approach

With the support of the NHLBI grant, Dr. Miyake and her team will conduct a translational study that integrates data from human patients, cellular and animal models. The study will:

  • Utilize data from TDD patients enrolled in an existing natural history study to better understand the clinical impact of B-vitamin supplementation.
  • Employ a TANGO2 -/- mouse model to investigate the role of vitamin B9 in arrhythmia suppression.
  • Leverage TANGO2-deficient induced pluripotent stem cell cardiomyocytes (iPSC-CMs) to further explore the cellular and molecular mechanisms driving arrhythmia development.

Expected Outcomes

This research will provide clinically relevant data and novel insights into the pathophysiology of TDD-related arrhythmias. By understanding how B-vitamin supplementation, particularly folate, influences heart rhythm stability, Dr. Miyake aims to develop evidence-based strategies that enhance survival and improve quality of life for TDD patients.

A History of Support

Dr. Christina Miyake has been a TANGO2 Research Foundation grant award recipient since 2020, with our community’s support providing a strong foundation for her groundbreaking NHLBI-funded project. Together, our collective dedication has advanced TDD research, significantly contributing to the growing understanding of this disorder and the development of potential treatment options.

We extend our heartfelt gratitude to the NHLBI for recognizing the importance of this work, as well as to Dr. Christina Miyake, the dedicated TDD team at BCM, and the researchers, clinicians, patients, and families whose steadfast support and contributions continue to propel progress in TDD research.  

This grant marks a pivotal step in our mission to unravel the complexities of TANGO2 Deficiency Disorder and advance innovative therapeutic solutions.  

Stay tuned for updates as we embark on this critical journey to improve the lives of those affected by TDD. Together, we are making meaningful strides toward a brighter future for the TANGO2 community.