Upregulation of Heat-Shock Protein (hsp)-27 in a Patient with Heterozygous SPG11 c.1951C>T and SYNJ1 c.2614G>T Mutations Causing Clinical Spastic Paraplegia.
dopamine oxidation
heat-shock protein 27
spastic paraplegia
spatacsin
synaptojanin
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
23 06 2023
23 06 2023
Historique:
received:
23
05
2023
revised:
18
06
2023
accepted:
21
06
2023
medline:
31
7
2023
pubmed:
29
7
2023
entrez:
29
7
2023
Statut:
epublish
Résumé
We report a 49-year-old patient suffering from spastic paraplegia with a novel heterozygous mutation and analyzed the levels of heat shock proteins (hsp)-27, dopamine (DA), and its metabolites in their cerebrospinal fluid (CSF). The hsp27 protein concentration in the patient's CSF was assayed by an ELISA kit, while DA levels and its metabolites in the CSF, 3,4-dihydroxyphenylacetic acid (DOPAC), Cys-DA, and Cys-DOPA were measured by HPLC. Whole exome sequencing demonstrated SPG-11 c.1951C>T and novel SYNJ1 c.2614G>T mutations, both heterozygous recessive. The patient's DA and DOPAC levels in their CSF were significantly decreased (53.0 ± 6.92 and 473.3 ± 72.19,
Identifiants
pubmed: 37510225
pii: genes14071320
doi: 10.3390/genes14071320
pmc: PMC10379220
pii:
doi:
Substances chimiques
3,4-Dihydroxyphenylacetic Acid
102-32-9
Dopamine
VTD58H1Z2X
Heat-Shock Proteins
0
HSP27 Heat-Shock Proteins
0
SPG11 protein, human
0
phosphoinositide 5-phosphatase
EC 3.1.3.36
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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