Faculty Mentor

Dr. Elaine Vanterpool

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Description

About 1% of live births worldwide are affected by congenital heart disease (CHD), a group of structural heart defects that exist from birth. Finding and evaluating the effects of NKX2-5 variations linked to CHD is the goal of this study. From basic heart defects like atrial septal defects (ASD) to more intricate malformations, congenital heart disease (CHD) encompasses a variety of structural heart abnormalities. Its development is influenced by both environmental and genetic factors. NKX2-5 is a protein coding gene that encodes a home box- containing a transcription factor. This gene plays a role in the early development of the heart, and mutations in it have been connected to abnormalities of the conduction system and structural heart defects. Potential impacts of NKX2-5 mutations are assessed using computational tools such as SIFT and PolyPhen-2. The NKX2-5 variants Lys15lle andGln22Arg were evaluated to see if it was pathogenic or benign. Variant Lys15lle was predicted to be probably damaging by Polyphen-2 and predicted to affect protein function by SIFT analysis. The variant Gln22Arg mutation predicted to be benign by Polyphen-2 and predicted to affect protein function by SIFT. The pathogenicity of these mutations suggests that impaired gene function affects gene expression patterns necessary for healthy heart development and function. This study contributes to current research by examining the role of NKX2-5 mutations in the pathophysiology of CHD emphasizing the need for genetic screening and early diagnosis in affected individuals.

Publication Date

2025

City

Huntsville

Disciplines

Biology

The Role of NKX2-5 variants associated with Congenital Heart Disease

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Biology Commons

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