what protein does progeria affect
The LMNA gene normally makes a protein called lamin A,which is an important protein for most cells of our bodies. Lamin A is foundin the cell nucleus (the part of each cell that contains the DNA) and helpsmaintain the shape and function of the cell. In Progeria, the LMNA mutation causes the gene to produce an abnormalLamin A protein called progerin. In children with Progeria, many cells in thebody â such as the blood vessels, skin, and bones â make progerin protein.As the children age, progerin builds up in these cells causing progressivedisease.
Causes. Researchers have discovered a single gene mutation responsible for progeria. The gene, known as lamin A (LMNA), makes a protein necessary for holding the center (nucleus) of a cell together. When this gene has a defect, researchers believe the genetic mutation makes cells unstable, which appears to lead to progeria's aging process. Unlike many genetic mutations, progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the child's genes are new (de novo).