Molecular Basis of Cholesterol Metabolism and Selected Other Genetic Disorders

Study ID
STU 072010-185

Cancer Related
No

Healthy Volunteers
Yes

Study Sites

Contact
Barbara Gilbert
214-648-2773
barbara.gilbert@utsouthwestern.edu

Principal Investigator
Helen Hobbs

Summary

The focus of the project is to define genetic defects associated with abnormal levels of cholesterol and other rare genetic disorders. Numerous proteins important in the metabolism of lipoproteins have been cloned and characterized in this institution. We are interested in analyzing individuals and families with unusual lipoprotein profiles and other rare genetic disorders to see if we can identify any particular gene(s) which may be responsible for disease. In order to do this we need to collect 12 teaspoons of blood from subjects and members of his/her family. We will use the plasma to quantify the lipoproteins or other proteins of interest, store lymphocytes and use the white blood cells to extract the DNA for genetic analysis. We hope to identify gene(s) which segregate with a particular phenotype. Urine samples may also be collected to measure protein. A skin biopsy or other tissue sample (a sample remaining from surgery) may be requested in rare cases. Tissue samples will be use to extract DNA and/or determine LDL receptor activity.

Participant Eligibility

Males and females over the age of 3 years with normal or abnormal levels of cholesterol or a family history of abnormal levels of cholesterol and/or atherosclerosis. Males or females over the age of 3 years with a suspected or diagnosed rare genetic disorder or a family history of a suspected or diagnosed rare genetic disorder. Any unaffected family members >3yrs may also be included.