How the body moves vitamin B12 and the genetic causes of inherited B12 disorders
B12 Trafficking and Inherited Defects
This project looks at how vitamin B12 is carried inside cells and how genetic faults lead to inherited B12-related conditions like methylmalonic aciduria or homocystinuria.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11286776 on NIH RePORTER |
What this research studies
Researchers are using genetic information from patients with inherited cobalamin (vitamin B12) disorders to track the proteins that escort B12 to its two essential enzymes in cells. They combine patient genetics with laboratory techniques that reveal protein structure, chemistry, and enzyme activity to see how mutations disrupt B12 delivery. Work includes experiments in cells and model systems and analysis of patient-derived samples to map B12 movement between cellular compartments. The team aims to link specific gene defects to the biochemical problems that cause symptoms.
Who could benefit from this research
Good fit: Ideal participants are people with known or suspected inherited cobalamin metabolism disorders (for example methylmalonic aciduria, homocystinuria, or related syndromes) or their family members who can provide genetic information or samples.
Not a fit: People whose B12 problems are due to common dietary deficiency or non-genetic causes (such as typical pernicious anemia) may not directly benefit from this research.
Why it matters
Potential benefit: If successful, this work could improve diagnosis and point toward new treatments or management strategies for people with inherited B12 metabolism disorders.
How similar studies have performed: Previous genetic and biochemical studies have identified many cobalamin trafficking genes and established key mechanisms, but important details remain novel and unresolved.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Banerjee, Ruma V — University of Michigan at Ann Arbor
- Study coordinator: Banerjee, Ruma V
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.