Let’s explore “Hirschsprung’s disease & genetics”

PURSER WELLNESSMTR & MTRR: Two Genetic SNPs That Can Change the Way You Look at MethylationA conversation with Dr. Purser

New public listing. Open the original source for the full discussion.

Is used to make coenzyme A, important in energy and fat metabolism.

An amino acid used in protein synthesis and other metabolic processes.

A family of enzymes made by the body that convert superoxide into hydrogen peroxide.

Needed for nerve function, DNA production and healthy red blood cells.

Forms enzyme helpers used in energy metabolism.

Supports amino-acid metabolism, neurotransmitter production and hemoglobin synthesis.

BCO1, also called BCMO1, helps convert beta-carotene from plant foods into retinal, a form used in vitamin A metabolism. Plant carotenoids and preformed vitamin A therefore enter the pathway at different points.

BRCA1 helps repair damaged DNA. Clinically classified pathogenic variants can affect inherited cancer risk; a common SNP or a variant of uncertain significance is a different finding.

BRCA2 helps repair damaged DNA. Clinically classified pathogenic variants can affect inherited cancer risk; a common SNP or a variant of uncertain significance is a different finding.

CBS helps move homocysteine into the pathway that supplies building blocks for glutathione.

CHDH helps convert choline toward betaine, a nutrient involved in the homocysteine pathway.