In their study in Nature Genetics, the NHGRI team found the gene defect causes developing cells to lose their normal ability to transport the building blocks of DNA, called base pairs, across the inner membrane walls of the mitochondria, which are tiny structures that function as the cell's metabolic powerhouses. None of the children has lived beyond the age of 14 months, and most die between 4 to 6 months. Over the past 40 years, 61 babies with MCPHA have been born to 23 nuclear families in the Old Order Amish community in Lancaster County, Pa. The study, published in the September issue of Nature Genetics, describes the gene mutation that underlies Amish microcephaly (MCPHA), a birth defect marked by a profoundly small head and brain size.
An international team, led by researchers from the National Human Genome Research Institute (NHGRI), has discovered the genetic cause for a rare form of microcephaly, a devastating brain disorder that has stricken infants among the Old Order Amish for nine generations.
Scientists Discover Genetic Defect Responsible For Devastating Brain Disorder Among Amish Babies Gene finding may shed light on normal brain development September 2002īETHESDA, Md.