Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III.

ABSTRACT:

Aims

Classification of spinal muscular atrophy (SMA) is associated with the clinical prognosis; however, objective classification markers are scarce. This study aimed to identify metabolic markers in the cerebrospinal fluid (CSF) of children with SMA types II and III.

Methods

CSF samples were collected from 40 patients with SMA (27 with type II and 13 with type III) and analyzed for metabolites.

Results

We identified 135 metabolites associated with SMA types II and III. These were associated with lysine degradation and arginine, proline, and tyrosine metabolism. We identified seven metabolites associated with the Hammersmith Functional Motor Scale: 4-chlorophenylacetic acid, adb-chminaca,(+/-)-, dodecyl benzenesulfonic acid, norethindrone acetate, 4-(undecan-5-yl) ben

SUBMITTER: Lu M 

PROVIDER: S-EPMC11016346 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature