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:C0014848 (
achalasia
)
2,804
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Nitric oxide is thought to have a role in the pathogenesis of
achalasia
. We performed a genetic analysis of 2 siblings with infant-onset
achalasia
. Exome analysis revealed that they were homozygous for a premature stop codon in the gene encoding
nitric oxide synthase 1
. Kinetic analyses and molecular modeling showed that the truncated protein product has defects in folding, nitric oxide production, and binding of cofactors. Heller myotomy had no effect in these patients, but sildenafil therapy increased their ability to drink. The finding recapitulates the previously reported phenotype of
nitric oxide synthase 1
-deficient mice, which have
achalasia
. Nitric oxide signaling appears to be involved in the pathogenesis of
achalasia
in humans.
...
PMID:Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia. 2602 45
