Autoimmune Addison disease is a rare and complex disorder in which the body’s immune system mistakenly attacks the adrenal glands. The adrenal glands play a critical role in producing hormones that regulate various bodily functions, including the body’s response to…
Juvenile myoclonic epilepsy (JME) is a rare genetic condition that is identified by its association with myoclonic seizures. It is one of the most common forms of generalized epilepsy and has been extensively studied by researchers. Scientific articles have provided…
The recent advances in genetic research have opened up new possibilities for medical treatments. Gene therapy is one such treatment that holds great promise for treating various genetic disorders and related conditions. However, the safety of gene therapy is a…
The SLC34A1 gene, also known as sodium-phosphate transporter 2A (NAPI-IIA) or sodium-dependent phosphate transport protein 2A (Pit-2), is a scientific term used to describe a protein-coding gene that is responsible for the regulation of mineral homeostasis in humans. Mutations in…
The TTPA gene, also known as the alpha-tocopherol transfer protein gene, is a genetic variant that is associated with deficiencies in vitamin E transport and function. Vitamin E is an essential nutrient that plays a crucial role in protecting cells…
Adenosine monophosphate deaminase deficiency is a rare genetic condition associated with the ADAMI gene. It is also known as myoadenylate deaminase deficiency. This condition affects the muscles and results in exercise intolerance. Patients with adenosine monophosphate deaminase deficiency experience muscle…
Mitochondrial DNA (mtDNA) is a type of genetic material found in the mitochondria, the powerhouses of the cells. It is maternally inherited, meaning it is passed down from the mother to her offspring. Unlike nuclear DNA, which is found in…
The HCCS gene, also known as the holocytochrome c-type synthase gene, is associated with a variety of conditions including microphthalmia, coloboma, and other eye-related defects. It plays a crucial role in the development of mitochondria, which are responsible for energy…
Saul-Wilson syndrome is a rare genetic condition with complex inheritance. It is associated with altered function of genes that cause a variety of clinical features. The syndrome is characterized by craniofacial abnormalities, intellectual disability, scalp defects, and other anomalies. The…
The TPO gene is a genetic variant that plays a crucial role in the production of the enzyme thyroperoxidase (TPO). This enzyme is responsible for the iodide oxidation and the organification of iodide to generate thyroid hormones. In this article,…