Linked Life Data

18978332

Source:http://linkedlifedata.com/resource/pubmed/id/18978332

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2008-11-3
pubmed:abstractText
Hereditary paraganglioma (PGL) is characterised by genetic predisposition to the development of highly vascular tumours of the paraganglionic tissues and caused by germ line inactivating mutations in the SDHB, SDHC and SDHD subunits of mitochondrial succinate dehydrogenase enzyme complex (SDH; mitochondrial complex II). Recent studies have demonstrated that SDH gene mutations in germ line occur in at least 11% of non-familial head and neck paragangliomas, 8% of non-familial pheochromocytomas, 28% of malignant pheochromocytomas and 33% of extra-adrenal pheochromocytomas. An increasing amount of data suggest that PGL mutations lead to constitutive activation of hypoxia signalling pathways. Genetic and structural models suggest that SDH mutations cause an accumulation of succinate and reactive oxygen species (ROS) which might act as downstream signalling molecules that activate hypoxia inducible pathways. However, many fundamental aspects of PGL pathogenesis, including the mechanism of ROS accumulation, the imprinted transmission pattern of SDHD mutations, and the precise role of SDH in regulation of oxygen homeostasis, remain poorly understood.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1468-6244
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
689-94
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Clinical and molecular progress in hereditary paraganglioma.
pubmed:affiliation
Department of Pathology, Yale University School of Medicine, 310 Cedar Street, BML B38, New Haven, CT 06520-8023, USA. bora.baysal@yale.edu
pubmed:publicationType
Journal Article, Review, Research Support, N.I.H., Extramural