THE WOODLANDS, Texas, June 26 /PRNewswire/ -- A team of scientists at Lexicon Genetics Incorporated (Nasdaq: LEXG - news) has reported discovering a novel gene called Neph1 that may play an important role in maintaining the filtration barrier that prevents nephrotic syndrome, a condition that can lead to kidney failure. The work was reported in the July 2001 (Vol. 21, No. 14) edition of the scientific journal Molecular and Cellular Biology.
Importantly, the team found that genetically engineered knockout mice lacking Neph1 had extremely high levels of urine protein, the primary characteristic of nephrotic syndrome. Also, abnormal structural changes found in the kidneys of these young mice are similar to lesions, present in some forms of nephrotic syndrome that often progress to scarring and result in kidney failure. The Neph1 knockout clone was selected by a computer-based search of Lexicon's OmniBank library of over 150,000 knockout mouse clones for sequences similar to that of human Nephrin, another protein known to play an important role in the kidney filtration barrier. In humans, absence of Nephrin causes a severe form of childhood nephrotic syndrome.
``By showing that Neph1 is required for normal kidney function, we have alerted the scientific and medical communities that Neph1 plays an important role in kidney physiology and that Neph1 deficiency may result in significant kidney disease,'' said David Powell, M.D., Director of Endocrinology at Lexicon Genetics. ``This work also validates our ability to use OmniBank clones to rapidly produce high quality knockout mouse lines that can be powerful tools in defining gene function. Our ability to study the effects of Neph1 deficiency in vivo may ultimately give researchers more guidance toward new treatments for kidney diseases.''
Lexicon scientists found that the Neph1 gene is located on human chromosome 1 in a region previously linked to a severe form of childhood nephrotic syndrome present in multiple members of a number of families. Lexicon has initiated a collaboration with a French team of researchers led by Dr. Corinne Antignac at Hospital Necker, Paris, who will perform genetic screens to determine if mutations in the Neph1 gene are responsible for the kidney disease in any of these families... |
