Collection, preparation, and biobanking of clinical specimens for analysis in polyaminopathies.
Document Type
Article
Publication Date
2025
Publication Title
Methods in enzymology
Abstract
Polyaminopathies are a relatively new family of rare genetic syndromes recently described in the literature. These syndromes are involved in the biosynthesis of polyamines, which include putrescine, spermidine, and spermine. Polyamines are aliphatic molecular that are found in most life forms, including humans, and are essential for embryogenesis, organogenesis, and tumorigenesis. The five known polyaminopathies that have been described to date include Snyder-Robinson Syndrome (SRS), Bachmann-Bupp Syndrome (BABS), Faundes-Banka Syndrome (FABAS), as well as neurodevelopmental disorders associated with variants in DHPS and DOHH. These syndromes share many overlapping clinical phenotypes, including developmental delay, hypotonia, and intellectual disability. Here we describe details for identifying and obtaining high-quality biological samples from patients with polyaminopathies. This includes special considerations for the informed consent process and the collection and shipment of biological samples for patients with rare diseases, many of whom live in countries around the world. We also detail the technical protocols for the collection, processing, storage, and tracking of biological samples for downstream research analysis specific to research in polyaminopathies, as well as biobanking for future use.
Volume
715
First Page
309
Last Page
321
Recommended Citation
VanSickle EA, Schultz CR, Bachmann AS, Bupp CP. Collection, preparation, and biobanking of clinical specimens for analysis in polyaminopathies. Methods Enzymol. 2025;715:309-321. doi: 10.1016/bs.mie.2025.01.073. PMID: 40382145.
DOI
10.1016/bs.mie.2025.01.073
ISSN
1557-7988
PubMed ID
40382145