Day 2: Research

Now that the disease has been identified, it is important to know what is Menkes disease and what is it doing to the newborn baby.

Menkes disease derives its name from its discoverer: John Hanks Menkes, who first noticed it in 1962. Menkes syndrome is a recessive genetic disorder that causes irregularities in the copper levels of the body leading to copper deficiency. This disease is caused by a mutation in the ATP7A gene located on chromosome Xq12-q13. This protein (ATP7A) is important

Because:

•          It absorbs copper from food in the small intestine
•          Provides necessary copper for enzymes in the Golgi Apparatus
•          Releases excess copper from the system in the cell membrane

Menkes is disease is cause by a mutation in the specific gene. A gene mutation is change in the arrangement or quantity of nitrogenous bases which constitute a gene. Menkes is almost always caused by a new type of mutation and there are over 150 identified mutations which cause the disease. These mutations create unwanted proteins that do not perform the vital tasks and may also cause severe abnormalities.

Menkes is an X-linked recessive gene disease. This means that the mutated gene is in the X chromosome. It is important to point out that since men have XY chromosomes and women have XX chromosomes, women are more likely to be carriers of the mutated gene, since they have double the chance to receive it while having double the chance to receive a normal gene in the other chromosome, and men are more likely fall victim to the disease since they only have one X chromosome.