Methods and materials for identifying polymorphic variants, diagnosing susceptibilities, and treating disease

US7879551B2 · kind B2 · utility

Assignees

• The United States of America, as represented by the Department of Health and Human Services · US
• THE PROVOST, FELLOWS AND SCHOLARS OF THE COLLEGE OF THE HOLY AND UNDIVIDED TRINITY OF QUEEN ELIZABETH NEAR DUBLIN · IE
• The Health Research Board · IE

Inventors

• Lawrence C. BRODY · Baltimore, US
• Anne PARLE-MCDERMOTT · Dublin, IE
• John D. Scott · Wixom, US
• Peadar KIRKE · Dublin, IE
• James Connell Mills · Rockville, US
• Faith PANGILINAN · Rockville, US
• Anne MOLLOY · Dublin, IE

Key dates

• Filing date: Dec 17, 2007
• Grant date: Feb 1, 2011
• Expiry date: Oct 20, 2028

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N2800/368
• WIPO field: Measurement
• WIPO sector: Instruments

Abstract

The invention is directed to materials and methods associated with polymorphic variants in two enzymes involved in folate-dependent and one-carbon metabolic pathways: MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, 10-formyltetrahydrofolate synthetase) and methylenetetrahydrofolate dehydrogenase (NADP+dependent) 1-like (MTHFD1L). Diagnostic and therapeutic methods are provided involving the correlation of polymorphic variants in MTHFD1, MTHFD1, and other genes with relative susceptibility for various pregnancy-related and other complications.