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    Topic review

    DRD5 Gene

    View times: 12
    Submitted by: Vivi Li
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    Dopamine Receptor D5

    1. Normal Function

    The DRD5 gene provides instructions for making a protein called dopamine receptor D5, which is found in the brain. This protein works together with a chemical messenger (neurotransmitter) called dopamine. Dopamine fits into the D5 receptor like a key in a lock, which triggers chemical reactions within nerve cells. Dopamine signaling has many critical functions in the brain, including regulation of attention, mood, memory, learning, and movement.

    2. Health Conditions Related to Genetic Changes

    2.1 Benign Essential Blepharospasm

    Several studies have examined a possible relationship between a common variation (polymorphism) in the DRD5 gene and benign essential blepharospasm. The results of these studies have been mixed. Some research has suggested that the polymorphism, a short repeated segment of DNA known as allele 2, occurs more often in people with benign essential blepharospasm than in people without the disorder. However, other studies have found no connection between this polymorphism and benign essential blepharospasm. Researchers are still working to clarify whether variants in the DRD5 gene are associated with this disorder.

    2.2 Other Disorders

    Other polymorphisms in the DRD5 gene appear to be associated with a common behavioral condition called attention-deficit/hyperactivity disorder (ADHD). This condition, which typically begins in childhood, is characterized by overactivity, impulsive behavior, and difficulty paying attention.

    Most studies of the DRD5 gene and ADHD have focused on a polymorphism located near the beginning of the gene. The region consists of two DNA building blocks (base pairs) that are repeated multiple times in a row. The size of this segment ranges from 134 to 156 base pairs. Multiple studies have suggested that a particular variant, which is 148-base pairs long, is associated with a moderately increased risk of ADHD. However, it is unclear how this polymorphism affects the risk of the disorder.

    Variations in the DRD5 gene are among many factors under study to help explain the causes of ADHD. A large number of genetic and environmental factors, most of which remain unknown, likely determine the risk of developing this complex condition.

    3. Other Names for This Gene

    • d(1B) dopamine receptor

    • d(5) dopamine receptor

    • D1beta dopamine receptor

    • DBDR

    • dopamine D5 receptor

    • dopamine receptor D1B

    • DRD1B

    • DRD1L2

    • DRD5_HUMAN

    • MGC10601

    The entry is from https://medlineplus.gov/genetics/gene/drd5

    References

    1. Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abruzzese G,Girlanda P, Defazio G, Berardelli A, Hallett M, Singleton AB. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.Mov Disord. 2007 Jan 15;22(2):162-6.
    2. Gizer IR, Ficks C, Waldman ID. Candidate gene studies of ADHD: a meta-analyticreview. Hum Genet. 2009 Jul;126(1):51-90. doi: 10.1007/s00439-009-0694-x.
    3. Li D, Sham PC, Owen MJ, He L. Meta-analysis shows significant associationbetween dopamine system genes and attention deficit hyperactivity disorder(ADHD). Hum Mol Genet. 2006 Jul 15;15(14):2276-84.
    4. Lowe N, Kirley A, Hawi Z, Sham P, Wickham H, Kratochvil CJ, Smith SD, Lee SY, Levy F, Kent L, Middle F, Rohde LA, Roman T, Tahir E, Yazgan Y, Asherson P, Mill J, Thapar A, Payton A, Todd RD, Stephens T, Ebstein RP, Manor I, Barr CL, WiggKG, Sinke RJ, Buitelaar JK, Smalley SL, Nelson SF, Biederman J, Faraone SV, Gill M. Joint analysis of the DRD5 marker concludes association withattention-deficit/hyperactivity disorder confined to the predominantlyinattentive and combined subtypes. Am J Hum Genet. 2004 Feb;74(2):348-56.
    5. Mill J, Curran S, Richards S, Taylor E, Asherson P. Polymorphisms in thedopamine D5 receptor (DRD5) gene and ADHD. Am J Med Genet B Neuropsychiatr Genet.2004 Feb 15;125B(1):38-42.
    6. Misbahuddin A, Placzek MR, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT. Apolymorphism in the dopamine receptor DRD5 is associated with blepharospasm.Neurology. 2002 Jan 8;58(1):124-6.
    7. Misbahuddin A, Placzek MR, Warner TT. Focal dystonia is associated with apolymorphism of the dopamine D5 receptor gene. Adv Neurol. 2004;94:143-6.
    8. Sibbing D, Asmus F, König IR, Tezenas du Montcel S, Vidailhet M, Sangla S,Oertel WH, Brice A, Ziegler A, Gasser T, Bandmann O. Candidate gene studies infocal dystonia. Neurology. 2003 Oct 28;61(8):1097-101.
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