Title: An Analysis of HMBS Variants Associated with Acute Intermittent Porphyria

Authors

Elaine Vanterpool, Oakwood University
Jason Kahari, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

AIP, also known as acute intermittent porphyria is a disease commonly characterized by the deficiency of hydroxymethylbilane synthase (HMBS). It presents itself with abdominal pain nausea, vomiting, peripheral neuropathy, and seizures. 1 in 2000 of the population inherits a disease-causing (pathogenic) mutation in the HMBS gene. This suggests that 1% of those who inherit a pathogenic mutation will experience porphyria symptoms. (National Organization of Rare Diseases). HMBS encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the condensation of four porphobilinogen molecules into the linear hydroxymethylbilane (National Library of Medicine). Pathogenic mutations in HMBS are known to impair the enzymes’ ability to properly produce heme, an iron-rich molecule in the hemoglobin and myoglobin. The purpose of this study is to identify and assess the pathogenicity of HMBS variants associated with AIP.

Publication Date

2025

City

Huntsville

Disciplines

Biology

Recommended Citation

Vanterpool, Elaine and Kahari, Jason, "Title: An Analysis of HMBS Variants Associated with Acute Intermittent Porphyria" (2025). Student Posters. 78.
https://ouscholars.oakwood.edu/student-posters/78