Question 1

What is the Meaning of MCT8 Transporter?

Accepted Answer

The Monocarboxylate Transporter 8, known as MCT8, is a critical protein located in the cell membranes throughout the body, primarily responsible for the active and specific transport of thyroid hormones, particularly triiodothyronine (T3) and thyroxine (T4), into target cells.

Question 2

What is the Context of MCT8 Transporter?

Accepted Answer

Operating within the complex system of thyroid hormone metabolism, MCT8 plays a vital role in ensuring that cells, especially those in the central nervous system, receive adequate thyroid hormone supply. Its function is essential for proper growth, differentiation, and neurodevelopment, highlighting its importance in maintaining physiological balance.

Question 3

What is the Significance of MCT8 Transporter?

Accepted Answer

Clinically, the proper function of MCT8 holds significant importance due to its indispensable role in neurodevelopment; genetic mutations in the SLC16A2 gene, which encodes MCT8, lead to Allan-Herndon-Dudley Syndrome (AHDS), a rare X-linked intellectual disability characterized by severe global developmental delay, hypotonia, and spasticity, underscoring its critical impact on patient well-being and brain health.

Question 4

What is the Mechanism of MCT8 Transporter?

Accepted Answer

The mechanism of MCT8 involves a highly specific active transport process where it binds to thyroid hormones on the extracellular side of the cell membrane and facilitates their movement across the lipid bilayer into the cell cytoplasm. This precise unidirectional transport ensures a steady intracellular concentration of thyroid hormones, which are then available to regulate gene expression.

Question 5

What is the Application of MCT8 Transporter?

Accepted Answer

In clinical practice, understanding MCT8's role is fundamental for diagnosing and managing Allan-Herndon-Dudley Syndrome, where genetic testing for SLC16A2 mutations confirms the condition. Furthermore, ongoing research explores therapeutic strategies, such as thyroid hormone analogs capable of bypassing a dysfunctional MCT8, aiming to improve neurological outcomes for affected individuals.

Question 6

What is the Metric of MCT8 Transporter?

Accepted Answer

The function of MCT8 is primarily assessed indirectly through clinical presentation and direct genetic sequencing of the SLC16A2 gene to identify pathogenic variants. While direct measurement of MCT8 protein activity in living patients is not routinely performed, analysis of serum thyroid hormone profiles, particularly elevated T3 and low T4 in the context of normal TSH, can suggest MCT8 deficiency, prompting further genetic investigation.

Question 7

What is the Risk of MCT8 Transporter?

Accepted Answer

Dysfunctional MCT8 poses a significant clinical risk, primarily manifesting as severe neurodevelopmental impairment and intellectual disability, as observed in Allan-Herndon-Dudley Syndrome. Without proper thyroid hormone transport into target cells, especially neurons, critical developmental processes are disrupted, leading to irreversible neurological deficits and a compromised quality of life for the affected individual.

MCT8 Transporter

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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