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Menkes Syndrome

Menkes Syndrome. Kinky Hair Disease. Rose Bevan 2006. Between Xq12-13.3 Located at Xq13.2-13.3 Gene is ATP7a, also called MNK Mutations in this gene can also cause Occipital Horn Syndrome. Gene. Gene codes for Copper-transporting ATPase 1 Supplies copper to copper-requiring proteins

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Menkes Syndrome

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  1. Menkes Syndrome Kinky Hair Disease Rose Bevan 2006

  2. Between Xq12-13.3 Located at Xq13.2-13.3 Gene is ATP7a, also called MNK Mutations in this gene can also cause Occipital Horn Syndrome Gene

  3. Gene codes for Copper-transporting ATPase 1 Supplies copper to copper-requiring proteins Catalyses ATP ADP Gene product found in trans-Golgi apparatus Relocates to plasma membrane when extracellular copper levels rise Expressed in all tissues except the liver Chemical abnormalities not found in liver Gene product

  4. 129 Mutations Can be more, or less severe 16 splicing mutations – the gene has 23 exons first exon not translated (but deletion of first exon causes Menkes) 46 gross deletions – as many as 20 exons deleted Mutations

  5. 26 Small deletions – frameshifts (except one) 10 small insertions – frameshifts One small indel Possible translocation? Mutations cont.

  6. No gene therapy but copper replacement therapy injections if recognised early Does not always work Vitamin C may be beneficial Vitamin E – antioxidant Chelating agents to prevent build up of copper Treatment?

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