However, all cells require energy. Mutations, or harmful changes in the genetic code of DNA, have been found in many individuals with mitochondrial disorders. In many of these cases the affected individual has a new mutation and the remainder of the family is normal. In other cases the mutation is passed along the family, from mother to child. Dr. Boles has currently evaluated 11 children with CVS and some evidence of probable mitochondrial disease.
Genetic testing is ongoing and so far a mtDNA mutation was found in one.
Each of these children had other problems including developmental delay, small size, or a history of seizures. Most, but not all, had mildly affected maternal family members which suggests that as yet unidentified mtDNA mutations are present. Dr. Boles approached CVSA in July of this year requesting funding for this study. The funds for this award will be paid out a designated research fund that originated from the symposium. These moneys were set aside to fund research projects that developed directly out of the meeting.