Molecular and Genetic Medicine

Thachillath Pramathan

Publications

• Short Communication
  In Vitro Study on the Response of Fibroblast Cellular Respiration to Lipoic acid, Thiamine and Carnitine in Patients with Dihydrolipoyl Dehydrogenase Deficiency
  Author(s): Fatma A. Al-Jasmi, Thachillath Pramathan, Hager Kowash and Abdul-Kader SouidFatma A. Al-Jasmi, Thachillath Pramathan, Hager Kowash and Abdul-Kader Souid
  
  Objectives: This study examined in vitro responses of fibroblast cellular respiration to lipoic acid, thiamine and carnitine in patients with dihydrolipoyl dehydrogenase (DLD) deficiency. This disorder impairs cellular bioenergetics and these compounds are used to improve clinical manifestations of the disease. The study aimed to utilize mitochondrial O2 consumption as a surrogate biomarker for examining cellular responses to metabolic therapies. Methods: Cultured fibroblasts from three patients were treated with therapeutic concentrations of the compounds for 24 hours. Cells were then harvested and processed for measuring respiration using phosphorescence oxygen analyzer. Patients 1 and 2 were severely symptomatic infants with homozygous c.1436A>T mutation in the DLD gene. Patient-3 was a mildly symptomatic adolescent with homozygous c.6.. Read More»
  

  Abstract PDF