PMID- 10657297
OWN - NLM
STAT- MEDLINE
DCOM- 20000224
LR  - 20190619
IS  - 0036-8075 (Print)
IS  - 0036-8075 (Linking)
VI  - 287
IP  - 5454
DP  - 2000 Feb 4
TI  - Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
PG  - 848-51
AB  - Hereditary paraganglioma (PGL) is characterized by the development of benign,
      vascularized tumors in the head and neck. The most common tumor site is the
      carotid body (CB), a chemoreceptive organ that senses oxygen levels in the blood.
      Analysis of families carrying the PGL1 gene, described here, revealed germ line
      mutations in the SDHD gene on chromosome 11q23. SDHD encodes a mitochondrial
      respiratory chain protein-the small subunit of cytochrome b in
      succinate-ubiquinone oxidoreductase (cybS). In contrast to expectations based on 
      the inheritance pattern of PGL, the SDHD gene showed no evidence of imprinting.
      These findings indicate that mitochondria play an important role in the
      pathogenesis of certain tumors and that cybS plays a role in normal CB
      physiology.
FAU - Baysal, B E
AU  - Baysal BE
AD  - Department of Psychiatry, The University of Pittsburgh Medical Center,
      Pittsburgh, PA 15213-2593, USA. baysalbe@msx.upmc.edu
FAU - Ferrell, R E
AU  - Ferrell RE
FAU - Willett-Brozick, J E
AU  - Willett-Brozick JE
FAU - Lawrence, E C
AU  - Lawrence EC
FAU - Myssiorek, D
AU  - Myssiorek D
FAU - Bosch, A
AU  - Bosch A
FAU - van der Mey, A
AU  - van der Mey A
FAU - Taschner, P E
AU  - Taschner PE
FAU - Rubinstein, W S
AU  - Rubinstein WS
FAU - Myers, E N
AU  - Myers EN
FAU - Richard, C W 3rd
AU  - Richard CW 3rd
FAU - Cornelisse, C J
AU  - Cornelisse CJ
FAU - Devilee, P
AU  - Devilee P
FAU - Devlin, B
AU  - Devlin B
LA  - eng
GR  - MH57881/MH/NIMH NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Science
JT  - Science (New York, N.Y.)
JID - 0404511
RN  - 0 (Cytochrome b Group)
RN  - 0 (Multienzyme Complexes)
RN  - EC 1.- (Oxidoreductases)
RN  - EC 1.3.5.1 (Electron Transport Complex II)
RN  - EC 1.3.99.1 (Succinate Dehydrogenase)
SB  - IM
MH  - Alleles
MH  - Amino Acid Sequence
MH  - Carotid Body/metabolism
MH  - Carotid Body Tumor/*genetics/metabolism
MH  - Chromosomes, Human, Pair 11/genetics
MH  - Cytochrome b Group/chemistry/*genetics/metabolism
MH  - Electron Transport Complex II
MH  - Genetic Linkage
MH  - Genomic Imprinting
MH  - *Germ-Line Mutation
MH  - Haplotypes
MH  - Heterozygote
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Mitochondria/metabolism
MH  - Molecular Sequence Data
MH  - Multienzyme Complexes/chemistry/*genetics/metabolism
MH  - Mutation, Missense
MH  - Oxidoreductases/chemistry/*genetics/metabolism
MH  - Paraganglioma/*genetics/metabolism
MH  - Polymorphism, Single-Stranded Conformational
MH  - Succinate Dehydrogenase/chemistry/*genetics/metabolism
EDAT- 2000/02/05 09:00
MHDA- 2000/02/26 09:00
CRDT- 2000/02/05 09:00
PHST- 2000/02/05 09:00 [pubmed]
PHST- 2000/02/26 09:00 [medline]
PHST- 2000/02/05 09:00 [entrez]
AID - 8242 [pii]
AID - 10.1126/science.287.5454.848 [doi]
PST - ppublish
SO  - Science. 2000 Feb 4;287(5454):848-51. doi: 10.1126/science.287.5454.848.