TTR

The TTR gene is associated with hereditary amyloidosis, a disease characterized by the deposition of abnormal protein called amyloid in tissues and organs. This protein forms when normally soluble proteins misfold into a fibrous structure. The TTR gene produces transthyretin protein, which normally helps transport thyroid hormone and retinol in the blood. Mutations in the TTR gene can lead to familial amyloid polyneuropathy (FAP), primarily affecting the nervous system and causing sensory abnormalities, pain, and weakness. Amyloidosis can also affect the heart and kidneys.1

Telomerase, on the other hand, is an enzyme that adds nucleotides to telomeres, which are DNA segments at the ends of chromosomes that determine a cell's life span. Telomerase is crucial for maintaining telomere length, particularly in reproductive cells, embryonic tissues, and cancer cells. Aberrant telomerase activity can fuel cancer by allowing cancer cells to replicate indefinitely. Changes in telomerase levels are linked to diseases like hepatic fibrosis, pulmonary fibrosis, and leukemia.2