Cranial and vertebral defects associated with loss-of-function of Nell
AssigneeUT-Battelle, LLC
InventorsCymbeline Culiat, Eugene Rinchik
Life of this patent
Estimating the term…
Abstract
The mouse Nell1 cDNA and amino acid sequences are disclosed. Also disclosed is a Nell1 knock-out mouse with several bone- and cartilage-related defects. On the molecular level, the loss of Nell1 function led to reduced expression of certain extracellular matrix proteins. The disclosure here provides new tools for studying bone and cartilage development as well as new drug screening and treatment strategies for bone- and cartilage-related diseases and conditions.
Claims25
An isolated polypeptide comprising an amino acid sequence defined by SEQ ID NO:2.
A mouse cell in which the mouse Nell1 nucleic acid sequence has been disrupted.
A mouse that does not express a detectable level of functional Nell1 protein and characterized by abnormal spine curvature, decrease intervertebral space, or both.
A method for identifying a candidate biomarker for a disease or condition related to abnormal bone or cartilage development, the method comprising the steps of:
- providing a human subject having the disease or condition;
- and
- determining whether the subject carries a mutation in Nell1 gene or whether Nell1 expression in the subject is lower than that of a normal control.
The method of 17, wherein the disease or condition is a spinal anomaly.
A method for treating damages to an intervertebral disc or articular cartilage in a human or non-human animal, the method comprising the step of:
- administering NELL1 protein or chondrocytes genetically engineered to overexpress NELL1 protein to an intervertebral disc or a joint.
Dependencies are inferred from the claim text.