2012 Helen Walker Research Grant Award
University of Göttingen | Nuno Raimundo, PhDSupporting research aimed at identifying new therapeutic targets for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Quick Facts
Year Awarded:
2012
Funding Amount:
$100,000
Lead Investigator:
Nuno Raimundo, PhD
Institution:
University of Göttingen, Faculty of Medicine, Department of Biochemistry, Germany
Research Focus:
Therapeutic development and disease mechanism
Status:
Completed
Project Title
MitochondriaParts of the cell that produce energy. More and AutophagyThe cell's internal cleanup system that removes damaged or unneeded material. More as Therapeutic Targets for Acid Maltase Deficiency
Project Snapshot
In 2012, the AMDA awarded the Helen Walker Research Grant to Nuno Raimundo, PhD, at the University of Göttingen, Faculty of Medicine, in Germany, to investigate new therapeutic strategies aimed at improving muscle function in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. While enzymeA protein that helps the body carry out chemical reactions. More replacement therapy has significantly improved patient outcomes, it primarily addresses the underlying enzymeA protein that helps the body carry out chemical reactions. More deficiency and may not fully correct the complex cellular dysfunctionWhen cells do not function properly due to internal stress or buildup of substances such as glycogen... More associated with the disease.
This project focused on understanding how mitochondrialParts of the cell that produce energy. More dysfunction and impaired autophagyThe cell's internal cleanup system that removes damaged or unneeded material. More contribute to the muscle pathology observed in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. The research aimed to determine whether improving mitochondrialParts of the cell that produce energy. More performance and enhancing cellular recycling pathways could alleviate symptoms of acid maltase deficiency.
Using mouse modelsA laboratory mouse used to study disease and test treatments before human trials. More of Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More, the research examined genetic and pharmacological approaches designed to increase mitochondrialParts of the cell that produce energy. More function and promote the removal of damaged cellular components. These studies were intended to identify potential therapeutic strategies that could complement existing treatments and improve muscle health in individuals living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Research Objectives
The project aimed to address several key questions related to treatment outcomes in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More:
1. Increase mitochondrial performance to improve skeletal muscle function in Pompe disease
Researchers investigated whether enhancing mitochondrialParts of the cell that produce energy. More biogenesis in skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. More could alleviate the muscle pathology associated with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. This approach involved crossing Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More mouse modelsA laboratory mouse used to study disease and test treatments before human trials. More with transgenic mice engineered to increase mitochondrialParts of the cell that produce energy. More content and activity.
2. Increase autophagy and lysosomal clearance in skeletal muscle
The study examined whether boosting autophagyThe cell's internal cleanup system that removes damaged or unneeded material. More and lysosomal biogenesis through TFEB overexpression could reduce lysosomal glycogen accumulationThe buildup of glycogen inside cells and tissues when it is not broken down properly. More and improve muscle function in a Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More mouse modelA laboratory mouse used to study disease and test treatments before human trials. More.
3. Evaluate pharmacologic activation of mitochondrial and autophagy pathways
Researchers tested whether drugs known to stimulate mitochondrialParts of the cell that produce energy. More biogenesis and autophagyThe cell's internal cleanup system that removes damaged or unneeded material. More — such as bezafibrate and metformin — could improve muscle performance and cellular function in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More models.
Why This Matters
Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More results from the buildup of glycogenA stored form of sugar used for energy. More within lysosomesA small part of the cell that acts like a recycling center, helping break down waste materials. More due to a deficiency of the enzymeA protein that helps the body carry out chemical reactions. More acid alpha-glucosidase. While enzymeA protein that helps the body carry out chemical reactions. More replacement therapy addresses the underlying enzymeA protein that helps the body carry out chemical reactions. More deficiency, research increasingly suggests that secondary cellular effects — such as mitochondrialParts of the cell that produce energy. More dysfunction and impaired autophagyThe cell's internal cleanup system that removes damaged or unneeded material. More — also contribute to muscle pathology.
By exploring therapeutic strategies that target these additional cellular pathways, this research aimed to identify new approaches that could complement existing treatment and improve long-term outcomes for people living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Research Team
Institution
Department of Biochemistry, Faculty of Medicine, University of Göttingen, Germany
Lead Investigator
Nuno Raimundo, PhD
Department of Pathology, Yale University School of Medicine
(Group Leader at the University of Göttingen, Germany)
Lead Investigator
Nuno Raimundo, PhD
Department of Pathology, Yale University School of Medicine
(Group Leader at the University of Göttingen, Germany)
Grant Support
The AMDA awarded $100,000 through the Helen Walker Research Grant to support this project.
Funding supported the salary of a postdoctoral scientist, laboratory consumables, and the maintenance and study of mouse modelsA laboratory mouse used to study disease and test treatments before human trials. More used to investigate mitochondrialParts of the cell that produce energy. More and autophagyThe cell's internal cleanup system that removes damaged or unneeded material. More pathways in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Publications Resulting from This Research
This section will be updated as we collect more information about publications resulting from this research.
Related Outputs
This section will be updated as we collect more information about presentations, follow-up studies, or related outputs from this project.
Ongoing Impact
Research supported by the Helen Walker Research Grant helps build knowledge that can shape future studies, clinical care, and treatment strategiesA planned approach to managing disease that may include medicines, monitoring, supportive care, and ... More in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More. As additional publications, presentations, and follow-up work emerge, this page will continue to be updated.
About the Helen Walker Research Grant
The Helen Walker Research Grant honors Helen Walker, a dedicated patient advocateA person who helps patients and families navigate care, information, services, and support. More and leader in the Pompe community. Through this grant, the AMDA supports innovative research aimed at improving understanding, treatment, and care for individuals living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.
Explore more Helen Walker Research Grant awardees and the growing body of Pompe research supported by the AMDA.