Supported Research

Metabolic alterations in glucose utilization and carnitine biosynthesis impact nutritional status in individuals with FA


Amount Funded: $292,405

Grant description:

Persons with FA, as well as their family members, voice concern about being underweight and unable to build muscle mass. These concerns have an obvious physical impact, not only on the person’s appearance to others and themselves and the negative impact on immune function and host defense but also have an equally important effect on the emotional well-being of an individual with a chronic medical condition. The results obtained from the proposed study could not only lead to treatment options to combat low BMI and muscle mass but could also have a significant positive impact on the way in which this rare disease population feels about themselves emotionally.

Grant follow-up:

The goals of this research study were to investigate possible mechanisms that lead to the impaired growth patterns and fat distribution seen in persons with Fanconi anemia (FA). The Cincinnati research team showed that people with FA respond differently to glucose intake following fasting, and this differential response can lead either to excessive burning of or the accumulation of fat. This fat accumulation is primarily observed within the trunk region, rather than being distributed throughout the body. People with FA also presented with significantly lower muscle mass and overall strength compared to non-FA healthy study participants. Results from this study suggest that people with FA lean towards underutilizing fat reserves and instead break down skeletal muscle. Future work on understanding the metabolic alterations observed on this study will inform clinical care practices that affect growth and nutritional status of individuals with FA.

Dr. Romick, in collaboration with Dr. Jim Wells and others, will be submitting an NIH grant to further this work.