Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Up to a few years ago, cluster headache (CH) was not thought to be an inherited disorder. However, several recent studies have suggested that genetic factors play a role in the disease. Genetic epidemiological surveys have shown that first-degree relatives of CH patients are more likely to have CH than the general population. CH has been reported in some concordant monozygotic twin pairs. At present, the type and the number of genes involved in the disease are still unclear. No mutation in the CACNA1A and NOS genes was found in CH patients. Recently, we have reported a significant association between the HCRTR2 gene and the disease. The purpose of this review is to describe recent advances in the genetics of CH.
J Headache Pain 2005 Sep
PMID:Genetics of cluster headache: an update. 1636 73

Acute infection is known to perturb psycho-neuroendocrine-immune (PNI) gene expression. Oligonucleotide microarrays were used to examine PNI gene expression in the peripheral blood of 13 subjects with infectious mononucleosis (IM). Novel peripheral blood gene expression activity was correlated with central-nervous-system-mediated symptoms including fatigue and sleep disturbance. Of note, expression of the MADS box transcription enhancer factor 2 polypeptide C (MEF2C) gene, previously implicated in skeletal muscle myogenesis, correlated with symptoms of musculo-skeletal pain and fatigue. Expression of the hypocretin/orexin receptor HCRTR2, which has been implicated in narcolepsy, correlated with sleep disturbance. And, VACHT, the vesicular acetylcholine transporter, was highly correlated with neurocognitive disturbance. The expression of both HCRTR2 and MEF2C in the peripheral blood was validated by reverse transcription PCR. Thus, investigation of the PNI response in peripheral blood may provide novel insights into the complex pathophysiology of centrally mediated disease states.
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PMID:Correlation of psycho-neuroendocrine-immune (PNI) gene expression with symptoms of acute infectious mononucleosis. 1637 18

Cluster headache (CH), a primary neurovascular headache syndrome, is characterized by recurrent, unilateral, short-lasting attacks of excruciating pain in the temporal and/or orbital region. The pain is considered one of the most severe pain conditions known to humans. Compared with the general population, first-degree relatives of probands with CH have a significantly increased risk of the same disorder. However, there seems to be no clear mode of inheritance, suggesting that both genetic and environmental factors are of importance, with the pathophysiology being multifactorial. Despite the genetic influence of the disease, a low prevalence and small pedigrees complicate the feasibility of genetic studies. To date, only genetic studies with limited sample sizes have been performed, but results have indicated an association with the HCRTR2 gene, which is involved in the regulation of chronobiological rhythms. Collaborative multicenter studies on large clinically well-defined materials are needed to reach a better understanding of the complex genetic background of CH.
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PMID:Genetic aspects of cluster headache. 1927 45

Cluster headache (CH) is a rare, excruciating primary headache disorder. A genetic basis has been suggested by family and twin studies, but the mode of transmission seems to vary and the amount of heritability is unclear. The number of genetic association studies investigating variants implicated in the pathophysiology of CH is limited. The HCRTR2 1246G > A and the ADH4 925A > G polymorphisms have been associated with CH. The former has been confirmed and may affect the hypothalamic hypocretin system. However, it only appears to account for a part of the genetic susceptibility for CH, and additional genetic and environmental factors are likely implicated. Pharmacogenetic studies have suggested that the GNB3 825C > T polymorphism may modify treatment response to triptans among CH patients by altering the signal transduction cascade via G protein-coupled receptors. Genetic studies in CH are notoriously difficult due to the complex nature of the disorder and the low prevalence of CH.
Curr Pain Headache Rep 2010 Apr
PMID:Genetics of cluster headache. 2042 2