Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Reexamination Certificate
1999-03-17
2001-06-05
Myers, Carla J. (Department: 1655)
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
C435S091200, C536S023500, C536S024310
Reexamination Certificate
active
06242181
ABSTRACT:
BACKGROUND OF THE INVENTION:
(i) Field of the Invention
The present invention relates to a method for the diagnosis of diseases by genetic analysis, in particular the analysis of genes for subunits of the human guanine nucleotide-binding proteins (G proteins).
(ii) Description of the Related Art
Heterotrimeric guanine nucleotide-binding proteins (G proteins) have an outstanding importance in intracellular signal transduction. They mediate the relaying of extracellular signals after stimulation of hormone receptors and other receptors which undergo a conformational change after receptor activation. This leads to activation of G proteins which may subsequently activate or inhibit intracellular effectors (eg. ion channels, enzymes). Heterotrimeric G proteins consist of three subunits, the &agr;, &bgr; and &ggr; subunits. To date, several different &agr; subunits, 5 &bgr; subunits and about 12 &ggr; subunits have been detected by biochemical and molecular biological methods (Binbaumer, L. and Bimnbaumer, M. Signal transduction by G proteins: 1994 edition.
J.Recept.Res.
15:213-252, 1995; Offermanns, S. and Schultz, G. Complex information processing by the transmembrane signaling system involving G proteins.
Naunyn Schmiedebergs Arch.Pharmacol.
350:329-338, 1994; NÜrnberg, B., Gudermann, T., and Schultz, G. Receptors and G proteins as primary components of transmembrane signal transduction. Part 2. G proteins: structure and function.
J.Mol.Med.
73:123-132, 1995; Neer, E. J. Heterotrimeric G proteins: Organizers of Transmembrane Signals.
Cell
80:249-257, 1995;. Rens-Domiano, S. and Hamm, H.E. Structural and functional relationships of heterotrimeric G-proteins. FASEB J. 9:1059-1066, 1995).
Receptor-medi ated activation of certain &agr; subunits can be inhibited by pretreatment with pertussis toxin (PTX). These include, in particular, the &agr; isoforms &agr;i1, &agr;i2 and &agr;i3, and various o&agr; subunits. G proteins of these types are also referred to as PTX-sensitive G proteins.
SUMMARY OF THE INVENTION-
We have found that a genetic modification in the gene for human G protein &bgr;3 subunits is suitable for the diagnosis of diseases. This genetic modification is particularly suitable for establishing the risk of developing a disorder associated with G protein dysregulation.
The invention furthermore relates to a method for establishing a relative risk of developing disorders associated with G protein dysregulation for a subject, which comprises comparing the gene sequence for an G protein &bgr;3 unit of the subject with the gene sequence SEQ ID NO:1, and, in the event that a thymine (T) is present at position 825, assigning the subject an increased risk of disease.
REFERENCES:
Kato et al. Hypertension. 32:935-938, 1998.*
Brand et al. Hypertension. 33:1175-1178, 1999.*
Town et al. American Journal of Medical Genetics. 88:465-468, 1999.*
Fogarty et al. Diabetologia. 41:1304-1308, 1998.*
R.G.H. Cotton, Current Methods of Mutation Detection, Mutation Research, vol. 285, Jan. 1, 1993, pp. 125-144.
Michael A. Levine et al., Molecular Cloning of Beta3 Subunit, a Third Form of the G Protein Beta-Subunit Polypeptide, Proc. Antl. Acad. Sci., vol. 87, 1990, pp. 2329-2333.
Winfried Siffert et al., Enhanced G Protein Activation in Immortalized Lymphoblasts From Patients With Essential Hypertension, J. Clin. Invest., vol. 96, 1995, pp. 759-766.
Myers Carla J.
Nixon & Peabody LLP
Safran David S.
Siffert Winfried
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