Author Archives: Maureen Newman

Whole Exome Sequencing Useful to Diagnose Leigh Syndrome

Even if two individuals are affected by the same disease, such as Leigh syndrome, they may not have identical symptoms or causes of disease. For example, Leigh syndrome is associated with over 30 gene mutations, making it difficult to use single-gene identification as a cost-effective means of pinpointing Leigh syndrome.

Study Investigates Simple Diagnosis for Cytochrome c Oxidase Deficiency

Children with mitochondrial disorders most commonly are deficient in cytochrome c oxidase (CIV), a protein involved in the electron transport chain the membrane of the mitochondria. The gold standard way of diagnosing CIV deficiency is taking a muscle biopsy and conducting a biochemical analysis on the tissue. Small children experience…

Procedure Corrects Kearns-Sayre Syndrome Eyelid Drooping

Chronic progressive external ophthalmoplegia (CPEO) is the most common characteristic of Kearns-Sayre syndrome, which is one member of the family of mitochondrial myopathies. Patients with CPEO may benefit from bilateral fascia lata lid suspension, a procedure explored by researchers in Brazil and Italy to correct blepharoptosis, or severe drooping of…