Andre Bachmann
Michigan State University, MI·Pharmacology
Polyamines are small molecules that cells make and need, including putrescine, spermidine and spermine. Mutations in the genes controlling their levels can cause rare neurodevelopmental disorders in children.
- Fields
Pharmacology
Genetics
Biochemistry
- Topics
polyamines
polyamine metabolism
putrescine
- Grants
- 1 known grant, through Jan 2028
What they work on
- Characterize and drug-treat mouse models that mimic ODC1 gain-of-function mutations in Bachmann-Bupp Syndrome to find the molecular mechanisms behind the patient phenotype.
- Optimize polyamine-targeting drug treatment, such as Me2Spm, in cells from Snyder-Robinson Syndrome patients and a new mouse model of a common SMS mutation.
- Expand clinical understanding of BABS and SRS using patient-derived cells, blood and tissue samples to improve care for this growing family of rare diseases.
- Test whether polyamine-lowering drugs such as DFMO (eflornithine), which blocks the ODC enzyme, normalize putrescine, spermidine and spermine levels and reverse disease features.
More about the research
This project asks how unbalanced polyamine levels lead to these disorders, and whether drugs that restore balance can reverse symptoms. It focuses on two conditions. Bachmann-Bupp Syndrome (BABS) is caused by new gain-of-function mutations in ODC1, the gene for ornithine decarboxylase, the enzyme that makes putrescine. Children with BABS have developmental delays, hair loss and distinctive features. Snyder-Robinson Syndrome (SRS) is X-linked and caused by loss-of-function mutations in SMS, the gene for spermine synthase.
Why it matters
Children with Bachmann-Bupp Syndrome and Snyder-Robinson Syndrome, two rare genetic neurodevelopmental disorders, have few treatment options. Clarifying how polyamine imbalance causes symptoms, and testing drugs such as the already approved DFMO, could guide new therapies and better clinical care. It could also help identify related polyamine disorders.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Fernando Fierro
University of California-Davis, CA·Physiology
Uncover how spermine synthase (SMS) deficiency impairs bone mineralization, testing whether excess spermidine blocks hypusination, the chemical activation of the protein eIF5A, and disrupts mitochondrial release of calcium phosphate.
Erica Clinkenbeard
Indiana University-Purdue University-Indianapolis, IN·Physiology
Test whether low iron weakens bone formation in CKD by reducing spermine, by giving spermine during iron deficiency to cultured bone-building cells (osteoblasts) and to mice with adenine diet-induced kidney failure.
Eric M Morrow
Brown University, RI·Neuroscience
Map gene-expression and molecular pathway changes in embryonic brain of 17q12-deletion mice, testing whether reduced dosage of genes in the interval, including the Wnt-regulating transcription factor Lhx1, disrupts early brain development.
The school
Michigan State University: 28 labs on PI Pages, $932M a year on research, 555 research doctorates a year.
Reach out
A start for your email. Fill in the brackets.