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Bachmann-Bupp syndrome and treatment
André S Bachmann1,2, Elizabeth A VanSickle2,3, Julianne Michael2,3
1Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.
Developmental Medicine and Child Neurology
|July 20, 2023
Summary
Bachmann-Bupp syndrome (BABS) is a rare neurodevelopmental disorder caused by ODC1 gene mutations. Treatment with the ODC inhibitor DFMO shows promise for improving symptoms like hair loss and developmental delay.
Area of Science:
- Genetics
- Biochemistry
- Neurodevelopmental Disorders
Background:
- Bachmann-Bupp syndrome (BABS) is a rare neurodevelopmental disorder.
- It is characterized by developmental delay, hypotonia, and alopecia.
- BABS results from 3'-end mutations in the ornithine decarboxylase 1 (ODC1) gene.
Purpose of the Study:
- To investigate the molecular mechanisms underlying BABS.
- To explore the therapeutic potential of drug repurposing for BABS.
- To evaluate the efficacy of DFMO in treating BABS.
Main Methods:
- Analysis of ODC1 gene mutations.
- Studying the impact of C-terminal ODC truncation on enzyme degradation and activity.
- Clinical observation of BABS patients treated with DFMO.
Main Results:
- ODC1 mutations lead to C-terminally truncated ODC variants.
- Truncated ODC accumulates due to impaired proteasomal degradation, increasing ODC activity.
- DFMO treatment in BABS patients resulted in improvements in hair growth, muscle tone, and development.
Conclusions:
- ODC1 gene mutations and subsequent ODC accumulation are central to BABS pathogenesis.
- DFMO, an ODC inhibitor, is a viable therapeutic strategy for BABS.
- Drug repurposing with DFMO offers a promising treatment avenue for this ultra-rare condition.
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