The Genetics of Menkes.
Copper is an essential
trace element in all biological systems, however, the
inability to regulate Copper Homeostasis can result
in dramatic phenotypic changes and is potentially lethal.
Two human genes that
encode Copper Transporters are amongst those
identified in Copper Regulation:
ATP7A gene which encodes the Menkes (MNK) protein, and,
ATP7B gene which encodes the Wilson (WND) protein.
Menkes Disease is a
genetic disorder of copper metabolism caused by mutations in
the ATP7A gene which is located on the X-chromosome.
The symptoms of Menkes
disease are caused by a failure of the copper transport
system within the cell and then across the cell
Because of this failure,
copper is unavailable to various cells where it is essential
for the structure and function of the different enzymes
that control the development of hair, bones, arteries, the
liver and the brain.
There have been many
advances in the understanding of Menkes Disease since the
disorder was first identified. Identification of the Menkes
gene (ATP7A) has enabled the disorder to be detected
prenatally, in the case of females known to carry the gene,
or at an early stage of infant development.
However, despite these
developments, there is still no known effective therapy for
those suffering with the disease.
Research on Menkes
Disease is currently focused on developing a better
understanding of the precise nature and impact of the
mutations of the Menkes gene in affected individuals. In the
long term, the ultimate goal is to establish Novel
Therapeutic Strategies such as gene therapy that could
treat affected individuals, regardless of the severity of
Professor Tony Monaco and
his research group have been actively researching Menkes
Disease ever sine the opening of the Welcome Trust Centre
for Human Genetics and in 1993 were on e of the first groups
to clone the Menkes gene.
Other Menkes Research