Question

Briefly explain how metabolism and genetics are related (give at least one specific example)

Answer 1

Ans. Genetic control of metabolism is related to inborn error of metabolic.

Rare genetic variants disrupt a single gene that then leads to extreme, eventually toxic levels of related metabolites.

Some gene mutations leads to formation of malfunctioning abnormal protein or enzyme that disrupts normal metabolic activity causing serious effects in body.

Example - in mouse very common observation

1.gene known as the melanocortin-4 receptor, or MC4R in mouse. When the gene is removed from the mouse genome, mice ate for longer periods of time, ate more food when it was available, used less energy, and were more prone to obesity. In humans it's been observed that people inherit a rare version of the MC4R gene and these people are found to be overweight slightly less often than those without it.

2. Other examples

Disorder	Enzyme Defect
Amino Acid Metabolism Disorders
Phenylketonuria	Phenylalanine hydroxylase
Maple syrup disease	Branched-chain alpha-keto acid dehydrogenase complex
Tyrosinemia type I	Fumarylacetoacetate hydrolase
Tyrosinemia type II	Tyrosine aminotransferase
Homocystinuria	Cystathionine beta-synthase
Carbohydrate Metabolism Disorders
Galactosemia	Galactose-1-phosphate uridyl transferase (most common cause: other enzyme defect)
GSD Type I (Von Gierke’s disease)	Glucose-6-phosphatase
GSD Type II (Pompe’s disease)	Acid alpha-glucosidase

Etc.