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: EC:2.6.1.44 (
AGT
)
770
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Hereditary
paraganglioma
of the head and neck is associated with germline mutations in the SDHD gene, which encodes a mitochondrial respiratory chain protein.
Paragangliomas
of the central nervous system are very rare, occur almost exclusively in the cauda equina of the spinal cord and are considered non-familial. In the present study, we screened 22 apparently sporadic paragangliomas of the cauda equina for SDHD mutations. One spinal
paraganglioma
and similar cerebellar tumours that developed 22 years later in the same patient contained a missense mutation at codon 12 (GGT-->
AGT
, Gly-->Ser) and a silent mutation at codon 68 (AGC-->
AGT
, Ser-->Ser). There was no family history of paragangliomas but DNA from white blood cells of this patient showed the same sequence alterations, indicating the presence of a germline mutation. All other cases of spinal
paraganglioma
had the wild-type SDHD sequence, except one case with a silent mutation at codon 68 (AGC-->
AGT
, Ser-->Ser). This is the first observation indicating that inherited SDHD mutations may occasionally cause the development of paragangliomas in the central nervous system.
...
PMID:Germline SDHD mutation in paraganglioma of the spinal cord. 1152 95
