Question 1

What is the Meaning of Thr92Ala?

Accepted Answer

Thr92Ala is a common single-nucleotide polymorphism (SNP) found within the gene that encodes for Type 2 Iodothyronine Deiodinase (DIO2), a crucial enzyme in thyroid hormone metabolism. The term precisely denotes the substitution of the amino acid Threonine (Thr) with Alanine (Ala) at position 92 of the DIO2 protein structure. This genetic variant is of interest in endocrinology because it has been consistently associated with subtle, yet significant, changes in the homeostatic regulation of the hypothalamic-pituitary-thyroid axis and peripheral tissue thyroid hormone action.

Question 2

What is the Origin of Thr92Ala?

Accepted Answer

This genetic variant was discovered through molecular biology studies focused on the human deiodinase enzymes, which are responsible for activating and inactivating thyroid hormones. The Thr92Ala polymorphism, designated as rs225014, represents a naturally occurring variation in the DNA sequence. Its clinical relevance originated from studies attempting to explain why some individuals with normal thyroid function tests still experience symptoms of hypothyroidism, suggesting a defect in peripheral hormone utilization.

Question 3

What is the Mechanism of Thr92Ala?

Accepted Answer

The mechanism by which the Thr92Ala variant affects thyroid function is linked to a potential change in the stability, catalytic efficiency, or subcellular localization of the DIO2 enzyme. Type 2 Deiodinase is responsible for converting the pro-hormone Thyroxine (T4) into the biologically active Triiodothyronine (T3) within target tissues. Individuals carrying the Ala variant may exhibit a decreased rate of T4 to T3 conversion, particularly under conditions of acute TSH stimulation, suggesting an impaired ability to rapidly modulate local T3 levels in response to physiological demand, thereby altering tissue-specific thyroid hormone action.

Thr92Ala

Meaning

Origin

Mechanism

Can Genetic Variations in Deiodinase Enzymes Explain Persistent Hypothyroid Symptoms with Normal TSH?

How Do Genetic Variations Influence Thyroid Treatment Outcomes?

Provided by the clinical team
at 4Ever Young Miami Dadeland

-15% ∞ HRTIO15

Your protocol begins with a conversation.

Visit

Schedule Appointment

About

Med & Wellness

4Ever Young Miami Dadeland

Communication

+1 786-529-6686

Email Us

Opening Hours