Heart disease and its risk factors
SFBR scientist Dr. Michael Mahaney
Cholesterol
SFBR scientists have identified the location of genes
that control either HDL-cholesterol or LDL-cholesterol.
Understanding the function of these genes will help in developing
drugs that either lower bad LDL-cholesterol or raise good
HDL-cholesterol for the prevention of heart attacks and stroke.
2007, SFBR geneticists announced their discovery that a particular gene, VNN1, plays a major role
in the regulation of HDL cholesterol levels, a finding with clear implications for heart disease prevention. In addition, because VNN1 produces cysteamine, which helps transport
toxic substances from cells - including excess cystine and glutamine - this gene could become the focus of novel efforts to prevent or treat
a variety of disorders, including Huntington's, Alzheimer's and cystinosis.
Effects of a High-Cholesterol Diet
Diet challenge studies in pedigreed opossums and baboons have
found genetic differences influencing whether an individual
has high blood cholesterol levels when placed on a high cholesterol
diet. Identification of the responsible genes and their
function will assist in the future development of treatments,
but more immediately, it could be used to help determine which
individuals are at risk and could benefit from a low-fat diet.
Susceptibility to Common Complex Diseases
1999, SFBR researchers published the baboon gene map,
the first genetic linkage of a nonhuman primate. In 2006, they published a second genetic linkage map,
this time for the rhesus monkey. These important research tools are being used to find genes that
influence susceptibility to common complex diseases
such as heart disease, hypertension, osteoporosis, obesity
and diabetes, and a wide variety of other ailments.
Obesity
Researchers at SFBR were among the first to identify genes
affecting general variation in body weight, and since 1997,
they have identified the locations of more than a half-dozen
genes influencing food intake, body fat accumulation and endocrine
function. Research on these genes will aid in the identification
of individuals at risk of developing obesity and, potentially,
in the development of treatments to prevent obesity and related
conditions.
Neonatal Disease