The Natural History Study is an ongoing study that involves participants that have point mutations in mitochondrial DNA (mtDNA). These mutations affect the genetic material contained in the mitochondria of the cell. Mitochondria, often called the “powerhouse” of the cell, are small structures within cells that provide the energy necessary to power growth and change over time. The purpose of this study is to better characterize mitochondrial disorders as they present over time in participants. Through this study we hope to determine whether mtDNA point mutations produce any measurable disturbances of thinking, attention, intelligence, behavior, or neurological functioning. Eligible participants must have a proven mitochondrial point mutation. Some or all participants may represent members of a single family because mtDNA point mutations are inherited from one’s mother. Fathers and other paternal family members may also be invited to participate as control subjects.
Subjects are asked to return to our center, usually on a yearly basis, for ongoing evaluation and comprehensive care.
Contact Kris Engelstad (ke4@columbia.edu) or Vanessa Battista (vb2109@columbia.edu)
Neuroglycopenia, also known as GLUT-1 Deficiency Syndrome (Glut-1 DS), is a disorder that interferes with the functioning of glucose transport proteins. These proteins are responsible for transporting glucose into the brain from the blood. When these transport proteins are not working properly, decreased amounts of glucose are available to the brain. Because glucose is the primary essential fuel for the developing brain, inadequate supplies of it can result in physical and cognitive difficulties. The purpose of this study is to examine the nature of these difficulties. Through this study we hope to determine the types of DNA mutations that cause this disease, how the glucose transporters are affected, and how the brain responds to these mutations. We plan to do this by studying the brain’s electrical activity, structure, and function. In this study we will evaluate language skills, attention, behavior, and neurological functioning. Eligible participants in this study are suspected of having neuroglycopenia.
Subjects are asked to return to our center, usually on a yearly basis, for ongoing evaluation and comprehensive care.
Contact Kris Engelstad (ke4@columbia.edu) or Vanessa Battista (vb2109@columbia.edu)
