Researchers develop stem cell-based models for studying mitochondrial disorders

September 23, 2011 By Sathya Achia Abraham, Virginia Commonwealth University

Neurons generated from human neural progenitors transfected with pathogenic mitochondrial DNA. Shown in green are neuronal extensions and nucleus in blue. Image courtesy of Khaled Alsayegh from the laboratory of Raj Rao, Ph.D./VCU.
(Medical Xpress) -- Virginia Commonwealth University researchers from the Center for the Study of Biological Complexity, the School of Engineering and the School of Medicine have developed a novel approach for generating stem cell-derived cell models to study neurodegenerative disorders that have defects in their mitochondrial genome and physiology such as Leber’s hereditary optic neuropathy, Leigh’s syndrome, Alzheimer’s disease and Parkinson’s disease.

These findings offer researchers the ability to have the right model systems in place to study the path of a disease and use it to discover new potential drugs or other therapies.

In this approach, according to the study’s principal investigator, Raj R. Rao, associate professor in the Department of Chemical and Life Science Engineering in the VCU School of Engineering, pathogenic mitochondrial DNA was introduced and stably expressed in human neural progenitor stem cells, which still maintained ‘stemness’ and could be successfully differentiated to neuronal lineages. The study was published online Sept. 15 in the Nature Publishing Group journal, Gene Therapy.

Rao; Shilpa Iyer, research scientist at VCU Center for the Study of and VCU Life Sciences; and colleagues reported the methodology for establishment of stem cell-derived cell lines with mitochondrial disorders. Defective mitochondria have been found to be the culprit in a wide variety of clinical disorders, many of which impact the nervous system in early mammalian development, and also in age-related disorders such as Alzheimer’s and Parkinson’s disease.

According to Rao, while this specific cell line can be predicted to have broad usage, the technique itself can be adopted for establishing similar stem cell-based disease models for a host of other diseases with defects in .

“We think that these results will aid in the development of customized cell lines for studying the effects of pathogenic mitochondrial DNA on the severity of disease during neuronal development,” said Iyer.

According to Rao, future studies will focus on establishing several customized disease lines that will assist in studying the effects of mitochondrial defects on disease progression.

Explore further: Discoveries in mitochondria open new field of cancer research

Related Stories

Discoveries in mitochondria open new field of cancer research

June 20, 2011
(Medical Xpress) -- Researchers at Virginia Commonwealth University Massey Cancer Center have revealed novel mechanisms in mitochondria that have implications for cancer as well as many other age-related diseases such as ...

Recommended for you

Age-related increase in estrogen may cause common men's hernia

October 16, 2018
An age-related increase in estrogen may be the culprit behind inguinal hernias, a condition common among elderly men that often requires corrective surgery, according to a Northwestern Medicine study was published Oct. 15 ...

New findings cast light on lymphatic system, key player in human health

October 16, 2018
Scientists at the Oklahoma Medical Research Foundation have broken new ground in understanding how the lymphatic system works, potentially opening the door for future therapies.

New model suggests cuffless, non-invasive blood pressure monitoring possible using pulse waves

October 16, 2018
A large team of researchers from several institutions in China and the U.S. has developed a model that suggests it should be possible to create a cuffless, non-invasive blood pressure monitor based on measuring pulse waves. ...

Discovery of inner ear function may improve diagnosis of hearing impairment

October 15, 2018
Results from a research study published in Nature Communications show how the inner ear processes speech, something that has until now been unknown. The authors of the report include researchers from Linköping University, ...

Team's study reveals hidden lives of medical biomarkers

October 12, 2018
What do medical biomarkers do on evenings and weekends, when they might be considered off the clock?

Widespread errors in 'proofreading' cause inherited blindness

October 12, 2018
Mistakes in "proofreading" the genetic code of retinal cells is the cause of a form of inherited blindness, retinitis pigmentosa (RP) caused by mutations in splicing factors.


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.