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Does this gene cause sleep walking?

2006-12-19 03:26:38 · 3 answers · asked by Manda C 1 in Science & Mathematics Medicine

3 answers

can't find any info on this, even when looking in ncbi
http://www.ncbi.nlm.nih.gov/index.html

2006-12-19 03:31:06 · answer #1 · answered by ♪ ♫ ☮ NYbron ☮ ♪ ♫ 6 · 0 0

I found these 2 articles, one is old enough to think that it is probably not related to sleep walking. This article shows it is a risk factor, not a cause. Further investigation is needed to declare it is a gene causing it. Where did you get the information? You might have more accurate information than me.

1: Mol Psychiatry. 2003 Jan;8(1):114-7.

HLA and genetic susceptibility to sleepwalking.

Lecendreux M, Bassetti C, Dauvilliers Y, Mayer G, Neidhart E, Tafti M.

Service de Psycopathologie de l'Enfant et de l'Adolescent, Hopital Robert Dobre,
Paris, France.

HLA-DQB1 typing was performed in 60 Caucasian subjects with sleepwalking (SW)
disorder and their families and 60 ethnically matched subjects without any
diagnosed sleep disorder. A total of 21 sleepwalkers (35.0%) were DQB1*0501
positive vs eight (13.3%) controls (P = 0.0056; odds ratio = 3.5, 95% CI =
1.4-8.7). The family data for all HLA subtypes were further assessed for allelic
association with SW using the transmission-disequilibrium test. A significant
excess transmission was observed for DQB1*05 and *04 alleles in familial cases,
strongly suggesting that a DQB1 polymorphic amino acid might be more tightly
associated than any single allele. Sequence screening revealed that Ser74 in the
second exon shared by all DQB1*05 and *04 was 20 times transmitted against 4
times non-transmitted (P = 0.001) in familial cases of SW. Thus, together with
narcolepsy and REM sleep behavior disorder, these findings suggest that specific
DQB1 genes are implicated in disorders of motor control during sleep.

PMID: 12556916 [PubMed - indexed for MEDLINE]

1: Am J Hum Genet. 2006 Aug;79(2):342-50. Epub 2006 Jun 26.

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes
familial epilepsy with nocturnal wandering and ictal fear.

Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, Parrini E,
Manfredi I, Pisano T, Pruna D, Curia G, Cianchetti C, Pasqualetti M, Becchetti
A, Guerrini R, Casari G.

Human Molecular Genetics Unit, Dibit San Raffaele Scientific Institute, Milan,
Italy.

Sleep has traditionally been recognized as a precipitating factor for some forms
of epilepsy, although differential diagnosis between some seizure types and
parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is
characterized by nocturnal seizures with hyperkinetic automatisms and poorly
organized stereotyped movements and has been associated with mutations of the
alpha 4 and beta 2 subunits of the neuronal nicotinic acetylcholine receptor. We
performed a clinical and molecular genetic study of a large pedigree segregating
sleep-related epilepsy in which seizures are associated with fear sensation,
tongue movements, and nocturnal wandering, closely resembling nightmares and
sleep walking. We identified a new genetic locus for familial sleep-related
focal epilepsy on chromosome 8p12.3-8q12.3. By sequencing the positional
candidate neuronal cholinergic receptor alpha 2 subunit gene (CHRNA2), we
detected a heterozygous missense mutation, I279N, in the first transmembrane
domain that is crucial for receptor function. Whole-cell recordings of
transiently transfected HEK293 cells expressing either the mutant or the
wild-type receptor showed that the new CHRNA2 mutation markedly increases the
receptor sensitivity to acetylcholine, therefore indicating that the nicotinic
alpha 2 subunit alteration is the underlying cause. CHRNA2 is the third neuronal
cholinergic receptor gene to be associated with familial sleep-related
epilepsies. Compared with the CHRNA4 and CHRNB2 mutations reported elsewhere,
CHRNA2 mutations cause a more complex and finalized ictal behavior.

PMID: 16826524 [PubMed - indexed for MEDLINE]

Related Links

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic
and genetic appraisal of 40 patients and delineation of the epileptic syndrome.
[Brain. 1998] PMID:9549500

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4
subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
[Nat Genet. 1995] PMID:7550350

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe
epilepsy. [Nat Genet. 2000] PMID:11062464

A new Chrna4 mutation with low penetrance in nocturnal frontal lobe
epilepsy. [Epilepsia. 2003] PMID:12823585

CHRNB2 is the second acetylcholine receptor subunit associated with
autosomal dominant nocturnal frontal lobe epilepsy. [Am J Hum Genet. 2001]
PMID:11104662

2006-12-19 08:19:56 · answer #2 · answered by mini_floppy 2 · 1 0

dont think so, wasnt aware there was a sleep walking gene

2006-12-19 03:31:10 · answer #3 · answered by well_clever_i_am 3 · 0 0

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