Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.

ABSTRACT: Mucolipidosis IV (MLIV) is an autosomal recessive pediatric disease that leads to motor and cognitive deficits and loss of vision. It is caused by a loss of function of the lysosomal channel transient receptor potential mucolipin-1 and is associated with an early pro-inflammatory brain phenotype, including increased cytokine expression. The goal of the current study was to determine whether blood cytokines are linked to motor dysfunction in patients with MLIV and reflect brain inflammatory changes observed in an MLIV mouse model. To determine the relationship between blood cytokines and motor function, we collected plasma from MLIV patients and parental controls concomitantly with assessment of motor function using the Brief Assessment of Motor Function and Modified Ashworth scales. We the

SUBMITTER: Misko AL 

PROVIDER: S-EPMC8834097 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature