Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0030567 (
Parkinson's disease
)
63,064
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in the gene encoding the mitochondrial carrier protein
SLC25A46
are known to cause optic atrophy associated with peripheral neuropathy and congenital pontocerebellar hypoplasia. We found novel biallelic
SLC25A46
mutations (p.H137R, p.A401Sfs*17) in a patient with
Parkinson's disease
and optic atrophy. Screening of six unrelated patients with parkinsonism and optic atrophy allowed us to identify two additional mutations (p.A176V, p.K256R) in a second patient. All identified variants are predicted likely pathogenic and affect very conserved protein residues. These findings suggest for the first time a possible link between
Parkinson's Disease
and
SLC25A46
mutations. Replication in additional studies is needed to conclusively prove this link.
...
PMID:SLC25A46 mutations in patients with Parkinson's Disease and optic atrophy. 3225 69
