Analysis of SMN protein in umbilical cord blood and postnatal peripheral blood of neonates with SMA: a rationale for prompt treatment initiation to prevent SMA development.

ABSTRACT:

Background

Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disease caused by insufficient functional survival motor neuron protein (SMN). The SMN expression level in the spinal cord is highest during the 2nd trimester of the foetal period. We previously reported the SMN spot analysis in peripheral blood using imaging flow cytometry (IFC) as a biomarker of functional SMN protein expression. In this study, we analysed neonatal cord blood, postnatal peripheral blood, and maternal peripheral blood in presymptomatic five infants whose sibling has type 1 SMA to estimate prenatal and postnatal SMN dynamics before the onset of severe SMA.

Results

Data from 37 untreated patients with SMA showed that SMN-spot⁺ cells were significantly correlated with SMA cli

SUBMITTER: Otsuki N 

PROVIDER: S-EPMC11869478 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature