Can a disease result from a mutation in a transcription factor?

Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias.

What does NKX2 5 gene do?

NKX2-5 belongs to the NK2 family of homeobox genes and is a homolog of the tinman gene found in Drosophila melanogaster. It functions as a key regulator in cardiac morphogenesis, regulating the transcription of various genes involved in the process.

What happens if a transcription factor is mutated?

Mutations of specific transcription factors can produce developmental abnormalities. One of the best characterized of such mutations involves the Pit-1 factor, which, as I have mentioned, plays a critical part in regulating gene expression in the pituitary.

What mutation causes congenital heart disease?

Chromosomal aneuploidy, the first recognized genetic cause of CHD, continues to be a major pathogenesis today (Table 1). CHD occurs in approximately 40% to 50% of trisomy 21 (1 in 600 births),52 20% to 50% of Turner syndrome (1 in 2500 female births),53 and in almost all cases of both trisomy 13 and trisomy 18.

What is a disorder caused by errors in transcription?

Many different diseases and syndromes, including cancer, autoimmunity, neurological disorders, diabetes, cardiovascular disease and obesity, can be caused by mutations in regulatory sequences and in the transcription factors, cofactors, chromatin regulators and noncoding RNAs that interact with these regions.

What happens if gene regulation is disrupted?

Disruption of normal regulation of the cell cycle can lead to diseases such as cancer. When the cell cycle proceeds without control, cells can divide without order and accumulate genetic errors that can lead to a cancerous tumor .

What does NKX2 5 stand for?

NKX2-5 (NK2 Homeobox 5) is a Protein Coding gene. Diseases associated with NKX2-5 include Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects and Ventricular Septal Defect 3. Among its related pathways are BMAL1-CLOCK,NPAS2 activates circadian gene expression and Cardiac conduction.

What is Holt Oram Syndrome?

Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals.

What are the two types of mutagens?

Mutagens can be physical mutagens, chemical mutagens, or biological mutagens. The ability of a substance to induce the alterations in the base pairs of DNA or mutation is known as mutagenicity.

What is the life expectancy of a person with congenital heart disease?

Survival. About 97% of babies born with a non-critical CHD are expected to survive to one year of age. About 95% of babies born with a non-critical CHD are expected to survive to 18 years of age.

Is congenital heart disease a disability?

Under guidelines set forth by the Social Security Administration (SSA), Symptomatic Congenital Heart Disease may qualify a person to receive Social Security Disability benefits.

What would happen if an error occurred in transcription?

However, errors that occur during transcription and translation can also have substantial effects on gene function by producing misfolded and malfunctioning proteins. Therefore, a single transcription error can result in many flawed proteins, whereas a translation error will disrupt only a single protein.