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Steely Hair Syndrome

also known as Menkes disease

What is Menkes Disease?

Menkes disease is a X-linked recessive disorder that causes a copper deficiency in the body. As the result of a mutation in the ATP7A gene, copper is poorly distributed to cells in the body. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels and the nervous system such as lysyl oxidase.

Diagnosis and Treatment

Causes

Symptoms

  • Weak muscle tone (hypotonia)
  • Sagging facial features
  • Intellectual disability
  • Developmental delay
  • Extensive neurodegeneration in the gray matter of the brain
  • Arteries in the brain can also be twisted with frayed and split inner walls

Menkes syndrome can be diagnosed by blood tests of the copper and ceruloplasmin levels, skin biopsy, and optical microscopic examination of the hair to view characteristic Menkes abnormalities.

Menkes disease can also be characterized by seizures, subnormal body temperatures and (most notably) kinky, brittle hair that is colorless or steel colored.

  • Mutations in the ATP7A gene, located on chromosome Xq21.1
  • Is passed down in an X-linked recessive pattern
  • About 30% of MNK cases are due to new mutations and 70% are inherited, almost always from the mother.
  • As with other X-linked disorders, female children of a carrier mother have an even chance of carrying the disorder, but are normally well; male children have an even chance of having the disorder or of being free from it.
  • ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body

While there is no cure for Menkes disease some copper supplements may be of some benefit in combination with pain medication. Menkes disease is primarily an infants disease with sufferers only living to age 3 on average.

Biological Mechanisms

The ATP7A protein helps control the absorption of copper from food. In other cells, the protein travels between the Golgi apparatus and the cell membrane to maintain copper concentrations in the cell. The protein is normally found in the Golgi apparatus, which is important for modifying proteins, including enzymes.

In the Golgi apparatus, ATP7A protein provides copper to certain enzymes that are critical for the structure and function of bone, skin, hair, blood vessels, and the nervous system. One of the enzymes, lysyl oxidase, requires copper for proper function. This enzyme cross-links tropocollagen into strong collagen fibrils. The defective collagen contributes to many of the aforementioned connective tissue manifestations of this disease.

If copper levels become excessive, the protein will travel to the cell membrane and eliminate excess copper from the cell. Mutations in the ATP7A gene such as deletions and insertions lead to parts of the gene being deleted, resulting in a shortened ATP7A protein. This prevents the production of a functional ATP7A protein, leading to the impaired absorption of copper from food and copper will not be supplied to certain enzymes.

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