Publications by authors named "Abdel Slama"
Purpose: Diseases caused by defects in mitochondrial DNA (mtDNA) maintenance machinery, leading to mtDNA deletions, form a specific group of disorders. However, mtDNA deletions also appear during aging, interfering with those resulting from mitochondrial disorders.
Methods: Here, using next-generation sequencing (NGS) data processed by eKLIPse and data mining, we established criteria distinguishing age-related mtDNA rearrangements from those due to mtDNA maintenance defects.
First-trimester placenta (<10 gestational weeks (GW)) develops in a low oxygen environment (≈2%). Early oxygen exposure can cause oxidative damage leading to pregnancy disorders. The aim of this work was to determine the major sources of placental superoxide during early pregnancy - more specifically before 10 GW - and to study redox adaptation to increased oxygen pressure after 12 GW.
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- - The study examines 31 patients with hepatic respiratory chain deficiencies, revealing that 67% showed no liver dysfunction initially, while 35% only had neurological symptoms.
- - Severe initial hyperlactacidemia was present in 52% of cases, and the overall mortality rate was high at 52%, particularly in newborns, although 28% did not develop liver disease over time.
- - The findings suggest that liver biopsies should be considered for patients with neurological symptoms even in the absence of liver issues, especially if mitochondrial respiratory chain defects are suspected.