A team of researchers from UCLA have developed a new technique for modifying blood stem cells to reverse a genetic mutation that causes IPEX — a life threatening autoimmune syndrome.
The new technique is a gene therapy that is similar to a technique that has cured patients with a similar condition called severe combined immune deficiency (also known as bubble baby disease). This new study was published in the journal Cell Stem Cell.
IPEX occurs when a mutation prevents the FoxP3 gene from making a protein required for blood stem cells to produce regulatory T cells, a type of immune cell. Without sufficient levels of regulatory T cells, the body’s immune system begins to malfunction and mistakenly attacks healthy tissue.
The researchers added a healthy copy of the FoxP3 gene to some blood-forming stem cells. These cells were then transplanted into mice. The scientists found that the approach corrected the genetic abnormality in the mice and restored correct immune system function.
To integrate the gene with the recipient’s body, the researchers used a ‘viral vector’. This is a specially modified virus that carries genetic information to a cell without causing a viral infection. In this case, the viral vector turned the gene on within regulatory T cells, but left other types of immune cells unaltered.
IPEX is short for immune dysregulation, polyendocrinopathy, enteropathy, X-linked. This syndrome primarily affects the skin, pancreas, thyroid, and intestines. The most common symptom includes Lymphadenopathy, Eczema, Hypothyroidism, and Diarrhoea. It is a potentially life threatening condition in early childhood because of the damage it does to internal organs.
IPEX can be treated with a bone marrow transplant, but finding a match can be difficult. Some patients are unable to have a bone marrow transplant because they are too ill. This new protocol means the treatment can be precisely targeted, resulting in a safer procedure that can be used by more patients. The researchers will move onto human trials in the coming years.
Source: New method modifies blood stem cells to reverse genetic mutation that causes IPEX
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