Genetics of FSGS

Martin Pollak's Laboratory

Our Research

Focal and segmental glomerulosclerosis (FSGS), also called focal sclerosis for short, is a common form of kidney disease defined by a particular pattern seen when a kidney biopsy specimen is examined under the microscope. Patients with this condition have increased amounts of protein in their urine, sometimes greatly increased. When urine protein excretion is quite high, a patient may have what nephrologists refer to as the "nephrotic syndrome" which is characterized by low protein levels in the blood, and edema, or swelling, which is most evident in the feet and legs. People with these conditions often, but not always, develop some degree of kidney failure, which may lead to the need for dialysis or kidney transplantation.

The Laboratory of Inherited Kidney Disease at Brigham and Women's Hospital and Harvard Medical School in Boston, Massachusetts, directed by Dr. Martin Pollak, seeks to identify genes that underlie the development of FSGS. We have identified the first of these genes, FSGS-1, or ACTN4, a gene which encodes a protein which seems to be important in the structure in the cytoskeleton of certain kidney cells. We are now trying to find other FSGS genes and understand exactly how defects in this first FSGS gene lead to kidney disease.