Back to Search
Start Over
[Paraganglioma in the area of the head and neck. A review of molecular genetic research].
- Source :
-
HNO [HNO] 2004 Jan; Vol. 52 (1), pp. 11-7. - Publication Year :
- 2004
-
Abstract
- Paragangliomas of the head and neck region are usually benign tumors that develop from chemoreceptors of paraganglionic origin in the majority of patients. These receptors play an important role in sensing and regulation of the blood CO(2) level. Genetic alterations in the mitochondrial enzyme complex II (SDH), which is involved in respiratory chain and citric acid cycle reactions, have been shown to lead to sporadic as well as familial cases of these tumors. The gene encoding the subunit SDHD shows mutations in up to 50% of these cases. In addition, loss of heterozygosity (LOH) was demonstrated in these tumor samples and has been shown to be connected with oncogenesis of paragangliomas. Thus, SDHD is the first known tumor suppressor gene encoding a mitochondrial protein. In this article we summarize the current state of knowledge concerning the development of paragangliomas.
- Subjects :
- Cell Transformation, Neoplastic genetics
Citric Acid Cycle genetics
DNA Mutational Analysis
Electron Transport genetics
Genes, Suppressor
Genetic Predisposition to Disease genetics
Humans
Loss of Heterozygosity
Otorhinolaryngologic Neoplasms diagnosis
Paraganglioma diagnosis
Pedigree
Otorhinolaryngologic Neoplasms genetics
Paraganglioma genetics
Protein Subunits genetics
Succinate Dehydrogenase genetics
Subjects
Details
- Language :
- German
- ISSN :
- 0017-6192
- Volume :
- 52
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- HNO
- Publication Type :
- Academic Journal
- Accession number :
- 14740109
- Full Text :
- https://doi.org/10.1007/s00106-003-0959-y