What is the TTR Gene?
The TTR gene encodes for transthyretin, a protein primarily involved in the transport of
vitamin A (retinol) and
thyroid hormones in the blood. The name transthyretin is derived from its role in transporting these substances.
Associated Conditions
How are TTR Gene Mutations Diagnosed?
Diagnosis typically involves a combination of
genetic testing and clinical evaluation. Genetic testing can identify specific mutations in the TTR gene. Additionally, imaging studies and biopsy samples may be used to detect amyloid deposits.
Treatment Options
Medication: Specific drugs like tafamidis have been approved to stabilize the transthyretin protein and prevent amyloid deposition.
Liver Transplant: Since the liver produces the majority of transthyretin, transplant can significantly reduce the production of mutant protein.
Supportive Care: Involving physical therapy and occupational therapy to manage symptoms and maintain quality of life.
Genetic Counseling
For families with a history of TTR-related conditions, genetic counseling can provide crucial information about the risks, implications, and potential preventive measures. This is especially important for parents planning to have more children.
Prognosis
The prognosis for children with TTR gene mutations varies depending on the specific mutation and the severity of the condition. Early diagnosis and treatment can significantly improve outcomes and quality of life. Future Research
Ongoing research aims to develop new treatments and improve existing ones for TTR-related conditions. This includes
gene therapy approaches and more effective drugs to stabilize or reduce amyloid deposits.
