Question 1

What is the Meaning of W742C Mutation?

Accepted Answer

The W742C mutation signifies a specific alteration within a gene, where the amino acid Tryptophan, represented by W, at position 742 is replaced by Cysteine, denoted as C. This particular genetic change is notably identified within the androgen receptor gene, impacting the resulting protein's structural integrity and subsequent biological function.

Question 2

What is the Context of W742C Mutation?

Accepted Answer

This genetic modification primarily impacts the androgen receptor, a pivotal nuclear hormone receptor that orchestrates the biological actions of androgens such as testosterone and dihydrotestosterone. The appropriate functionality of this receptor is indispensable for male sexual development and the maintenance of male secondary sexual characteristics, alongside its influence on various physiological processes in both biological sexes.

Question 3

What is the Significance of W742C Mutation?

Accepted Answer

The W742C mutation carries substantial clinical importance as a recognized etiology of Androgen Insensitivity Syndrome (AIS), a condition characterized by a varied spectrum of cellular unresponsiveness to androgens. Its presence can manifest in diverse phenotypic presentations, ranging from complete androgen insensitivity with a female external phenotype despite a 46,XY karyotype, to partial insensitivity observed as ambiguous genitalia or infertility in genetically male individuals.

Question 4

What is the Mechanism of W742C Mutation?

Accepted Answer

At a molecular level, the W742C mutation typically resides within the ligand-binding domain of the androgen receptor protein. This specific amino acid substitution can critically disrupt the receptor's capacity to bind androgens effectively, impede its necessary conformational change upon ligand binding, or hinder its subsequent translocation to the nucleus and productive interaction with DNA response elements. Such impairments collectively prevent the proper activation of androgen-responsive genes, leading to the cellular and systemic manifestations characteristic of androgen insensitivity.

Question 5

What is the Application of W742C Mutation?

Accepted Answer

Identification of the W742C mutation is primarily accomplished through targeted genetic sequencing of the androgen receptor gene in individuals presenting with clinical indicators suggestive of androgen insensitivity, such as primary amenorrhea in phenotypic females with a 46,XY karyotype, or ambiguous genitalia in neonates. Comprehensive genetic counseling is subsequently offered to affected individuals and their families, providing clarity on the inheritance pattern and implications for reproductive health and gender identity.

Question 6

What is the Metric of W742C Mutation?

Accepted Answer

Diagnosis of conditions associated with the W742C mutation involves a thorough clinical evaluation, precise hormonal assays to assess androgen levels including testosterone, dihydrotestosterone, luteinizing hormone, and follicle-stimulating hormone, alongside karyotyping to ascertain genetic sex. Definitive confirmation relies on advanced molecular genetic testing, specifically direct sequencing of the AR gene, to pinpoint the exact W742C variant. Functional assays of the androgen receptor can further delineate the precise impact of the mutation on receptor activity.

Question 7

What is the Risk of W742C Mutation?

Accepted Answer

Without accurate diagnosis and diligent clinical management, individuals carrying the W742C mutation and experiencing androgen insensitivity face potential risks including misdiagnosis, delayed or inappropriate medical interventions, and significant psychological distress concerning gender identity and reproductive health. In instances of complete androgen insensitivity, undescended testes pose a risk of malignant transformation if not surgically removed, although this risk is comparatively lower than for intra-abdominal testes in other conditions. Continuous clinical oversight remains paramount for optimizing health outcomes and supporting overall well-being.

W742C Mutation

Meaning

Context

Significance

Mechanism

Application

Metric

Risk

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