"Monitoring ODC activity and polyamines in Bachmann-Bupp syndrome patie" by Chad R Schultz, Elizabeth A. VanSickle et al.
 

Monitoring ODC activity and polyamines in Bachmann-Bupp syndrome patient biological samples.

Document Type

Article

Publication Date

2025

Publication Title

Methods in enzymology

Abstract

Polyamines are aliphatic molecules that include putrescine, spermidine, and spermine. Polyamines are present in most living organisms including humans. These positively charged molecules play important roles in cell physiology and pathology by contributing to embryonic cell development, regulation of cell division and, if overproduced, the stimulation of cancer cell proliferation and tumorigenesis. We recently discovered Bachmann-Bupp Syndrome (BABS); a rare neurodevelopmental disorder linked to de novo mutations in the ornithine decarboxylase 1 (ODC1) gene. ODC1 gene mutations that are linked to BABS always produce C-terminally truncated versions of the enzyme ornithine decarboxylase (ODC). These shortened ODC proteins remain enzymatically active and are not cleared by the proteasome, therefore leading to ODC protein accumulation in cells. ODC is a key enzyme of polyamine biosynthesis by converting ornithine to putrescine, and if accumulated, can lead to high putrescine levels in human cells including red blood cells (RBCs) and primary dermal fibroblasts. Here we describe how to quantitatively measure ODC enzymatic activity and the polyamines by a radiolabeled

Volume

715

First Page

257

Last Page

270

DOI

10.1016/bs.mie.2025.01.071

ISSN

1557-7988

PubMed ID

40382142

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