Brain Cells Grown from Skin Cells Reveal Certain Effects of Down Syndrome

from Counsel & Heal by Cheri Cheng:
Brain disorders, such as Down syndrome, which is the most common type of hereditary intellectual disability, are some of the hardest conditions to understand. There are multiple mechanisms and levels of activity that occur in the brain that make it difficult to pinpoint the exact relationships between genetic mutations and the symptoms they cause. In Down syndrome people, in particular, researchers know that the condition results from an extra copy of a single chromosome. Researchers do not know how this one copy could result in a wide range of symptoms. In an attempt to understand this, researcher Anita Bhattacharyya, a neuroscientist at the Waisman Center at the University of Wisconsin-Madison, studied brain cells that were created from the skin cells of people with Down syndrome.
"Even though Down syndrome is very common, it's surprising how little we know about what goes wrong in the brain. These new cells provide a way to look at early brain development," she explained.

Why Down Syndrome Boosts Susceptibility to Other Conditions

from Science Daily.com:
A study led by UC Irvine researchers has revealed some of the underlying neural factors that explain why people with Down syndrome are more susceptible to Alzheimer's disease, diabetes and autistic spectrum disorders. Jorge Busciglio, associate professor of neurobiology & behavior, and colleagues analyzed the cellular and molecular mechanisms leading to oxidative stress and mitochondrial dysfunction in individuals with Down syndrome.
They found that this breakdown in energy metabolism within brain cells contributes to the higher probability of these other conditions.
Down syndrome occurs when a person has 47 chromosomes instead of the usual 46. Estimates suggest that 25 percent or more of individuals over 35 with Down syndrome show signs of Alzheimer's-type dementia. This percentage increases with age.
The incidence of Alzheimer's disease in people with Down syndrome is roughly three to five times greater than in the general population. Pablo Helguera, Jaqueline Seiglie and Michael Hanna of UC Irvine; Jose Rodriguez of UCLA; and Gustavo Helguera of Argentina's University of Buenos Aires also contributed to the study, which appears in the Jan. 8 issue of Cell Metabolism and was supported by the Larry L. Hillblom Foundation and the National Institutes of Health.

University of California - Irvine (2013, January 10). Why Down syndrome boosts susceptibility to other conditions. ScienceDaily. Retrieved January