Sandbox Reserved 489: Difference between revisions
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The structure of renin bound with the inhibitor Aliskiren has been solved using X-ray diffraction at 3.0 angstrom resolution.<ref>PMID: 10903938</ref> | The structure of renin bound with the inhibitor Aliskiren has been solved using X-ray diffraction at 3.0 angstrom resolution.<ref>PMID: 10903938</ref> | ||
==Diseases== | |||
Renal tubular dysgenisis is caused by defects in the renin gene. Renal tubular dysgenisis is an autosomal recessive disorder of renal tubular developement and is characterized by persistant fetal anuria and perinatal death. The RAS plays a crucial role in the developement of the kidneys during early fetal life. <ref>PMID:1611425</ref> | |||
Familial juvenile hyperuricemic nephropathy type 2 is also caused by defects in the renin gene. Familial juvenile hyperuricemic nephropathy type 2 is characterized by slowly progressive renal failure and anemia. The autosomal dominant disorder is caused by a deletion of leucine 16 or a mutation of leucine 16 to arginine. The mutations effect the hydrophobicity of the signal sequence and disrupt the proper transport of preprorenin into the endoplasmic reticulum and thus effecting prerenin processing. The mutatnt proteins are toxic and reduce the viability of renin expressing cells, eventually causing renal failure.<ref>PMID:19664745</ref> | |||
==References== | ==References== | ||
<references /> | <references /> | ||
