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DDP syndrome

MIM.304700 Xq22

Friday 27 January 2006

The DDP syndrome is an X-linked recessive disorder also known as the Mohr-Tranebjaerg syndrome. It is associated with a novel defect in mitochondrial protein import. Therefore, the DDP syndrome should be considered as the first example of a new group of mitochondrial import diseases.

The defective gene is TIMM8A, homologous to the yeast protein Tim8, which belongs to a family of proteins that are involved in intermembrane protein transport in mitochondria.

Etiology

- Mohr-Tranebjaerg syndrome is caused by mutation in the TIMM8A (DDP) gene (MIM.300356)

  • allelic disease to Jensen syndrome (MIM.311150)

References

- Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet. 2001 Oct 1;10(20):2277-84. PMID: 11673411

- Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet. 2001 May;2(5):342-52. PMID: 11331900