"Collection, preparation, and biobanking of clinical specimens for anal" by Elizabeth A. VanSickle, Chad R Schultz et al.
 

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

DOI

10.1016/bs.mie.2025.01.073

ISSN

1557-7988

PubMed ID

40382145

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