Research Foundation for Mental Hygiene, Inc.

The United States of America, As Represented by the Secretary, Department of Health and Human Services

Progeria Research Foundation, Inc.

William Ted Brown

Richard Kascsak

Giuseppe LaFauci

Francis S Collins

Leslie B Gordon

B Maria H Eriksson

A system and method for the detection and quantification of fragile X mental retardation protein (FMRP) in human tissue and blood samples. The system includes several high avidity monoclonal antibodies that may be provided on Xmap microspheres to capture FMRP from a tissue or blood specimen. The resulting complex is reacted with a polyclonal anti-FMRP rabbit antibody and then mixed with an anti-rabbit IgG antibody conjugated to phycoerythrin. Fluorescence emitted from the resulting complex is a function of the amount of FMRP present in the specimen.

System and method for quantifying fragile X mental retardiation 1 protein in tissue and blood samples

Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), methods of treating such conditions, methods of selecting treatments, methods of screening for compounds that influence Lamin A activity, and methods of influencing the expression of LMNA or LMNA variants are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening. Also provided are kits for carrying out the methods described herein.

[object Object]

System and method for quantifying fragile X mental retardation 1 protein in tissue and blood samples

Growing community of inventors

Staten Island, NY, United States of America

William Ted Brown