Source:http://linkedlifedata.com/resource/pubmed/id/15496428
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
24
|
| pubmed:dateCreated |
2004-12-3
|
| pubmed:abstractText |
Paroxysmal non-kinesigenic dyskinesia (PNKD) is characterized by spontaneous hyperkinetic attacks that are precipitated by alcohol, coffee, stress and fatigue. We report mutations in the myofibrillogenesis regulator 1 (MR-1) gene causing PNKD in 50 individuals from eight families. The mutations cause changes (Ala to Val) in the N-terminal region of two MR-1 isoforms. The MR-1L isoform is specifically expressed in brain and is localized to the cell membrane while the MR-1S isoform is ubiquitously expressed and shows diffuse cytoplasmic and nuclear localization. Bioinformatic analysis reveals that the MR-1 gene is homologous to the hydroxyacylglutathione hydrolase (HAGH) gene. HAGH functions in a pathway to detoxify methylglyoxal, a compound present in coffee and alcoholic beverages and produced as a by-product of oxidative stress. Our results suggest a mechanism whereby alcohol, coffee and stress may act as precipitants of attacks in PNKD. Stress response pathways will be important areas for elucidation of episodic disease genetics where stress is a common precipitant of many common disorders like epilepsy, migraine and cardiac arrhythmias.
|
| pubmed:grant | |
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Dec
|
| pubmed:issn |
0964-6906
|
| pubmed:author |
pubmed-author:AbramowiczMarc JMJ,
pubmed-author:AhnAndrew HAH,
pubmed-author:AuburgerGeorg W JGW,
pubmed-author:AveryanovYuriY,
pubmed-author:BrunoMichiko KMK,
pubmed-author:FriedmanAndrzejA,
pubmed-author:FuYing-HuiYH,
pubmed-author:GrimesDavid ADA,
pubmed-author:HuangYongY,
pubmed-author:KwiecinskiHubertH,
pubmed-author:LangAnthony EAE,
pubmed-author:LeeHsien-YangHY,
pubmed-author:NielsenJorgen EJE,
pubmed-author:PandolfoMassimoM,
pubmed-author:PtácekLouis JLJ,
pubmed-author:ServideiSerenellaS,
pubmed-author:SorensenBeatrice FBF,
pubmed-author:TangLingL,
pubmed-author:Van BogaertPatrickP,
pubmed-author:XuYingY
|
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
13
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
3161-70
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading |
pubmed-meshheading:15496428-Animals,
pubmed-meshheading:15496428-Central Nervous System,
pubmed-meshheading:15496428-Chorea,
pubmed-meshheading:15496428-Chromosome Mapping,
pubmed-meshheading:15496428-Female,
pubmed-meshheading:15496428-Humans,
pubmed-meshheading:15496428-In Situ Hybridization,
pubmed-meshheading:15496428-Male,
pubmed-meshheading:15496428-Mice,
pubmed-meshheading:15496428-Muscle Proteins,
pubmed-meshheading:15496428-Mutation,
pubmed-meshheading:15496428-Pedigree,
pubmed-meshheading:15496428-Protein Isoforms,
pubmed-meshheading:15496428-Sequence Analysis, DNA,
pubmed-meshheading:15496428-Stress, Physiological
|
| pubmed:year |
2004
|
| pubmed:articleTitle |
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
|
| pubmed:affiliation |
Department of Neurology, UCSF, San Francisco, CA, USA.
|
| pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|