Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up

Emerging therapies for mitochondrial disorders

“…The delivery of wild-type nDNA ( Di Meo et al , 2012 ; Bottani et al , 2014 ; Torres-Torronteras et al , 2014 ) or mtDNA ( Ellouze et al , 2008 ; Yu et al, 2012a , b ) using viral vectors is another possibility, or perhaps the replacement of dysfunctional proteins via the cell nucleus, hitch-hiking on the mitochondrial import mechanism ( Perales-Clemente et al , 2011 ). Moving away from the two genomes, small molecule screens may enhance function of the respiratory chain, stem cell therapies could correct enzyme defects due to nuclear gene defects ( Hirano et al , 2006 ; Hill et al , 2009 ; Halter et al , 2011 ; Lenoci et al , 2011 ; Filosto et al , 2012 ; Sicurelli et al , 2012 ; Hussein, 2013 ), and treatments aimed at non-specifically preventing neurodegeneration may be the way forward. Some of these approaches capitalize on the ‘uniqueness’ of mitochondria, where other approaches build on knowledge acquired from rare and common neurological disorders.…”

Mitochondrial disease: genetics and management

“…Allogenic haematopoietic stem cell transplant has emerged as a promising therapeutics to restore the enzymatic function in patients with MNGIE caused by TYMP mutations but this treatment is associated with high morbidity and mortality [ 25 , 75 ].…”

Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

“…We describe the saccadic features of two patients affected by MNGIE: patient 1 (P1, 27 years old) with juvenile onset and rapid evolution who received HSCT at 23 years [5] and patient 2 (P2, 47 years old), late onset and severe course, who was waiting for transplant. P2 presented with a typical phenotype and analysis for TP revealed a homozygous A to C transition in exon 7 (A3371C).…”

“…P2 presented with a typical phenotype and analysis for TP revealed a homozygous A to C transition in exon 7 (A3371C). P1 instead, carrying a homozygous c.1249dupC mutation of TP, improved clinically after transplant and restored enzyme activity to normal levels [5]. Patient's information and data acquisition were collected under the approval of the local ethical committee.…”