Methods for assessing risk for cardiac dysrythmia in a human subject

a human subject and risk assessment technology, applied in the field of detecting the risk of cardiac disease, can solve the problem that patients may have a heightened risk of cardiac dysrhythmia

Inactive Publication Date: 2008-09-11
UNIV OF UTAH RES FOUND
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Problems solved by technology

If the patient has an alteration in a KCNJ2 gene, the patient may have a heightened risk for a cardiac dysrhythmia as compared to a person without an alteration in his or her copies of the KCNJ2 gene.

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  • Methods for assessing risk for cardiac dysrythmia in a human subject
  • Methods for assessing risk for cardiac dysrythmia in a human subject
  • Methods for assessing risk for cardiac dysrythmia in a human subject

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Embodiment Construction

[0035]As discussed previously, Andersen's Syndrome is a rare disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. In the past Andersen's Syndrome has been diagnosed based on the phenotypic expression of the dysmorphic features, paralysis, and cardiac arrhythmias. AS occurs either sporadically or as an autosomal dominant trait. In AS families, expression of the characteristic traits is highly variable. Thus, AS may seemingly skip a generation because of the low level of phenotypic expression or non-penetrance in a person within the AS kindred. It is likely that the AS protein plays a complex role in development and cell excitability with some redundancy with other proteins.

[0036]The invention is based on the discovery that mutations in the Kir2.1 gene, KCNJ2, cause the triad of phenotypes in Andersen's Syndrome, including periodic paralysis, cardiac arrhythmias, and dysmorphic features. Andersen's Syndrome mutations involve residues in important...

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Abstract

The present invention relates to methods for assessing the risk of a patient for developing a potentially fatal cardiac dysrhythmia and for diagnosing Andersen's Syndrome. A tissue sample from a patient is obtained and the DNA or proteins of the sample isolated. From the DNA and protein isolates the sequence of the KCNJ2 gene or the Kir2.1 polypeptide can be obtained. The KCNJ2 gene or the Kir2.1 can be screened for alteration as compared to the wile-type sequence. An alteration in a copy of the KCNJ2 gene or a Kir2.1 polypeptide indicates that the patient has a high risk for developing a cardiac dysrhythmia and can be diagnosed with Andersen's Syndrome. The invention also related to isolated nucleic acid molecules with one or more alterations as compared to the wild-type sequence.

Description

REFERENCE TO RELATED APPLICATIONS[0001]This application is a divisional application of prior filed U.S. application Ser. No. 10 / 475,452 filed Oct. 21, 2003, which claims priority to U.S. Provisional Application Ser. No. 60 / 286,146 filed Apr. 24, 2001. This application hereby incorporates by reference both such applications.BACKGROUND OF THE INVENTION[0002]1. The Field of the Invention[0003]The present invention relates to methods of detecting risk for cardiac disease. More specifically, the present invention relates to genetic based methods for detecting a risk for a cardiac dysrhythmia in a patient and for diagnosing Andersen's Syndrome.[0004]2. The Relevant Technology[0005]Andersen's Syndrome (AS) is a rare disorder characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. Canun, S., et al. (1999) Am J Med Genet 85: 147-56; Sansone, V. et al. (1997) Ann Neurol 42: 305-12; Tawil, R. et al. (1994) Ann Neurol 35: 326-30. The dysmorphology includes short statu...

Claims

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12Q1/68C12Q1/6883
CPCC12Q2600/156C12Q1/6883
Inventor PTACEK, LOUISFU, YING-HUI
Owner UNIV OF UTAH RES FOUND
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