JAN 23, 2018 2:43 PM PST

Unique Epigenetic Signatures Diagnose Rare Disorders

WRITTEN BY: Kara Marker

Epigenetic changes impact gene activity without actually altering the sequence of DNA, and scientists are now able to diagnose rare disorders based on specific epigenetic signatures. From the Greenwood Genetic Center (GGC), scientists are improving diagnosis of neurodevelopmental disorders that are often difficult to tell apart.

DNA molecule that is methylated on both strands on the center cytosine. DNA methylation plays an important role for epigenetic gene regulation in development and cancer. Credit: Christoph Bock, Max Planck Institute for Informatics

"Many of the disorders we studied have clinical overlap, which makes sense as the genes causing each of these disorders all work within the same epigenetic machinery, determining the gene's expression and expression of other genes," explained co-author Charles Schwartz, PhD.

But in a new study of 14 neurodevelopmental disorders, Schwartz and other GGC researchers identified nine of the disorders as having unique methylation signatures. DNA methylation is a known process of epigenetics, where a methyl group is either added or removed to change DNA expression. The research team was able to produce this finding using a methylation array analysis. Of the rare disorders included in this study, Sotos syndrome, Kabuki syndrome, CHARGE syndrome, and ATRX were among those with unique epigenetic signatures.

Applying each of the signatures associated with the disorders to existing tests could greatly improve the accuracy of diagnoses. Scientists could screen for multiple symptoms with maximum sensitivity and specificity. Additionally, they could build a “single machine learning classification tool” to make accurate diagnoses.

Most important is using the unique epigenetic sequences to differentiate between each of the nine disorders. For patients whose results show no sign of any of the nine disorders, researchers could also assign “low probability scores,” providing the patients additional information of their risk of developing these disorders.

Lastly, facilitating these tests could be faster and more efficient, with no need for parental samples or brain tissue to test; peripheral blood samples from each patient will suffice.

Schwartz says that the findings also produced an “epigenetic echo model” that illustrates additional information about each disorder’s unique epigenetic signature: what causes them to develop and cause disease.

"The echo model states that while an initial epigenetic dysfunction arises during early development, a broader methylation legacy or echo remains throughout the genome leading to the unique signature,” Schwartz explained. “This may help explain the variability and phenotypic overlap among these disorders."

The present study was published in the journal American Journal of Human Genetics.

Sources: Environmental Health Perspectives, Greenwood Genetic Center

About the Author
  • I am a scientific journalist and enthusiast, especially in the realm of biomedicine. I am passionate about conveying the truth in scientific phenomena and subsequently improving health and public awareness. Sometimes scientific research needs a translator to effectively communicate the scientific jargon present in significant findings. I plan to be that translating communicator, and I hope to decrease the spread of misrepresented scientific phenomena! Check out my science blog: ScienceKara.com.
You May Also Like
SEP 11, 2019
Health & Medicine
SEP 11, 2019
Diagnosis and Treatment of Neurosarcoidosis
Sarcoidosis is a multisystem inflammatory disease characterized by the formation of non-caseating granulomas in the affected organs. The majority of p...
OCT 14, 2019
Genetics & Genomics
OCT 14, 2019
Researchers Develop a Score to Quantify the Risk of Epilepsy
It usually takes two seizures before a person can be diagnosed with epilepsy. New work can help change that....
OCT 24, 2019
Clinical & Molecular DX
OCT 24, 2019
Patients can Self-Inject Easily Using an Integrated Pre-Filled Syringe and Autoinjector
The patients suffering from chronic disease require a regular dose of medicines, either orally or as injections. To prevent a monthly visit...
NOV 27, 2019
Health & Medicine
NOV 27, 2019
3D-printed cell traps catch cancer cells on the move
The early stages of metastasis, or the spread of cancer cells from the primary tumor site, are incredibly difficult to detect by analyzing blood samples. F...
FEB 05, 2020
Clinical & Molecular DX
FEB 05, 2020
A new CRISPR-based test for coronavirus infections
A surge in infections has caused panic surrounding the coronavirus (2019-nCoV) outbreak to reach a fever pitch. Despite being only moderately infective, 20...
FEB 19, 2020
Immunology
FEB 19, 2020
Testing the Immune Response to Ovarian Cancer Treatment
There is a new diagnostic test for the deadliest form of gynecological cancer – ovarian cancer. Better tests mean better diagnostics, and better diag...
Loading Comments...