Geoffrey R Abbott

US Patent:

20040197818, Oct 7, 2004

Filed:

May 11, 2004

Appl. No.:

10/842558

Inventors:

Igor Splawski - Alston MA, US
Mark Keating - Brookline MA, US
Geoffrey Abbott - New Haven CT, US
Federico Sesti - New Haven CT, US
Steve Goldstein - Guilford CT, US

International Classification:

C12Q001/68
G01N033/53
G01N033/567
C07H021/04
C07K014/705

US Classification:

435/006000, 536/023500, 435/069100, 435/320100, 435/325000, 530/350000

Abstract:

The present invention is directed to genes and gene products related to Min-K which form ion channels and to a process for diagnosis of ion channel disorders, including long QT syndrome (LQT). For example, KCNE2 forms Ipotassium channels and is associated with LQT. LQT is diagnosed in accordance with the present invention by analyzing the DNA sequence of KCNE2 of an individual to be tested and comparing the respective DNA sequence to the known DNA sequence of a normal KCNE2 gene. Alternatively, these MinK-related genes of an individual to be tested can be screened for mutations which cause ion channel disorders, including LQT. Prediction of ion channel disorders, including LQT, will enable practitioners to prevent the disorders using existing medical therapy. This invention is further directed to the discovery that the HERG and KCNE2 (also known as MiRP1) proteins coassemble to form a cardiac Ipotassium channel.

US Patent:

6864364, Mar 8, 2005

Filed:

Apr 14, 2000

Appl. No.:

09/550163

Inventors:

Igor Splawski - Alston MA, US
Mark T. Keating - Brookline MA, US
Geoffrey W. Abbott - New Haven CT, US
Federico Sesti - New Haven CT, US

Assignee:

University of Utah Research Foundation - Salt Lake City UT
Yale University - New Haven CT

International Classification:

C07H021/04

US Classification:

536 235, 536 231, 4353201, 435325, 435468, 435471, 4352523, 435243, 43525411, 435348, 435349, 435358, 435410, 435455

Abstract:

The present invention is directed to genes and gene products related to Min-K which form ion channels and to a process for diagnosis of ion channel disorders, including long QT syndrome (LQT). For example, KCNE2 forms Ipotassium channels and is associated with LQT. LQT is diagnosed in accordance with the present invention by analyzing the DNA sequence of KCNE2 of an individual to be tested and comparing the respective DNA sequence to the known DNA sequence of a normal KCNE2 gene. Alternatively, these MinK-related genes of an individual to be tested can be screened for mutations which cause ion channel disorders, including LQT. Prediction of ion channel disorders, including LQT, will enable practitioners to prevent the disorders using existing medical therapy. This invention is further directed to the discovery that the HERG and KCNE2 (also known as MiRP1) proteins coassemble to form a cardiac Ipotassium channel.