Expression of global oxidative stress and matrix metalloproteinases is associated with rett syndrome

Rett syndrome (RTT) is characterized by microcephaly, cognitive impairment, abnormal muscle tone, epilepsy, and ataxia, yet misdiagnoses are not uncommon. Oxidative stress (OS) and matrix metalloproteinases (MMPs) has been implicated in a variety of neurological diseases and inflammatory conditions. The aims of the study were to investigate the serum values of global oxidative stress (OS) and levels of MMP-2 (gelatinase), MMP-9 and 13 (collagenase) in RTT girls, since we hypothesized that OS and MMPs play a role in the on-going pathological processes of RS leading to the progression and deterioration of their neurological functions. Total level of MMP-2, 9 and 13 were measured in serum of six RTT girls (average age of 14.2 ± 1.6) by ELISA, and global OS was measured by CR 3000 instrument, FORM system. The RTT girls had significant (p = 0.001) increased serum levels of MMP-2 (mean values) and MMP-9 (mean values), yet MMP-13 mean values were comparable to age-and-gender matched non RTT girls. OS values were significantly higher in RTT girls comparing control groups. The increased OS values and MMP-2 and 9 levels in RTT girls suggest their involvement in the chronic pathogenesis resulting in continuing neurological damage. Our findings can provide another aspect indicating certain MMPs and OS as possible biochemical markers and their potential application in future therapeutic strategies.