SNP Shot: Genomic Insights

Proopiomelanocortin (POMC) deficiency is a condition characterized by early-onset, severe obesity. Individuals with this deficiency also exhibit low adrenocorticotropic hormone (ACTH) levels and often present with red hair and fair skin.

Infants with POMC deficiency typically have a normal birth weight; however, they experience persistent hunger, leading to overeating (hyperphagia). This results in rapid weight gain and severe obesity by the age of one year. Excessive hunger and obesity persist throughout the affected individual's life. The susceptibility of these individuals to weight-related complications, such as cardiovascular disease or type 2 diabetes, remains uncertain.

The reduced ACTH levels associated with POMC deficiency cause adrenal insufficiency. This occurs when the adrenal glands, located above the kidneys, fail to produce sufficient hormones. Adrenal insufficiency can lead to hypoglycemia (severely low blood sugar). Additionally, it may cause seizures, hyperbilirubinemia (elevated bilirubin levels in the blood), and cholestasis (impaired bile production and release). Without prompt intervention, adrenal insufficiency can be life-threatening.

Fair, easily sunburnt skin and red hair are frequently observed in individuals with POMC deficiency, although these features are not universally present.

Inheritance:

POMC deficiency follows an autosomal recessive inheritance pattern. This means that both copies of the POMC gene in each cell must contain mutations for the condition to manifest. Both parents of an affected individual carry one copy of the mutated gene. While typically not exhibiting POMC deficiency themselves, they may have a higher likelihood of developing obesity.