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Rapid diagnostic method of Rett syndrome

AutophagyMitochondriaRed Blood CellsRett Syndrome


The invention herewith presented concerns the possibility of detecting the mitochondria inside the Red Blood Cells (RBCs) as a tool for an early diagnosis of patients affected by the Rett Syndrome. The mitochondria detection can be achieved through an immuno-enzymatic assay on a very small volume of peripheral venous blood which can be withdrawn through a digital prick.

Technical features

The invention concerns the immuno-detection of mitochondria inside the Red Blood Cells (RBCs) as a toll for an early diagnosis of Rett Syndrome. Human RBCs do not contain mitochondria under phyisological condition since they are cleared through an autophagy mediated process during the maturation of the reticulocytes. In Rett patients, an alteration of the autophagy was documented: hence, mitochondria are pathologically retained inside the Red Blood Cells. Several biochemical approaches allow to detect the presence of mitochondria, like as immuno-detection of sirtuin-3 or by applying specific dyes for the mitochondrial membrane. It is further relevant to recall that the Rett Syndrome is, to date, the first human pathological condition linked to mitochondria retention inside the RBCs.

Possible Applications

  • To set up immuno-enzymatic kit for early diagnosis.


  • The possibility to set up a dast and cheap screening
  • The need for a very small amount of peripheral venous blood which can be achieved with lower inasivity and collaboration of the patient