JUN 29, 2018 4:34 AM PDT

TRAF7 Mutation Responsible for Mysterious Disorder

WRITTEN BY: Kara Marker

A multisystem developmental disorder with specific symptoms shared by seven patients had gone unexplained, but a new genetic sequencing study may provide at least part of an answer. From the Baylor College of Medicine, scientists discuss how mutations in a gene called TRAF7 (TNF receptor association factor 7) could be causing this mysterious condition.

The team from Baylor is accustomed to conducting whole exome sequencing, meaning the sequence the DNA of all the genes that code for proteins. This type of research is done for the purpose of identifying genetic culprits of mysterious diseases.

The patients’ shared characteristics include developmental delay and congenital heart defects, with limb and digital anomalies as a “key unifying feature.”

Researchers began their study with by sequencing the whole exome of each of the seven patients’ genomes. The sequencing data led them to identify four different mutations in the gene TRAF7 and no other gene mutations associated with other diseases.

In addition, for six out of the seven patients, their parents did not share the same TRAF7 mutations, a phenomenon called a de novo mutation. Further analysis showed that the TRAF7 mutations negatively affected activity of a cellular pathway, ERK1/2. Researchers took this as a sign of a stronger causative connection between TRAF7 mutation and the developmental disorder experienced by the seven patients.

"Finding gene mutations in a particular gene does not indicate that it is causing the disease,” explained corresponding author Dr. Xia Wang. “One way to show that the changes we found in gene TRAF7 could be causing the disease is to determine whether the mutations can affect the relevant signaling pathways associated with the gene.”

Interestingly, the TRAF7 mutations they found in the present study are also seen in cancer tissue, making it one of many genes associated with both cancer and human developmental disorders. TRAF7 and other TRAF genes are involved in multiple biological processes, like embryonic development, tissue homeostasis, and immune regulation.

"Interestingly, previous work has shown that a change of function of the ERK1/2 pathway also is associated with a group of diseases called RASopathy, which share some features with the TRAF7-related disorders reported in this work," Wang said. "Further studies are needed to determine the possible mechanistic link between these two groups of diseases."

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

Sources: Baylor College of Medicine, Journal of Cellular Physiology

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
APR 13, 2021
Cardiology
Can a Ketosis Metabolite Act as a Biomarker for Cardiovascular Diseases?
APR 13, 2021
Can a Ketosis Metabolite Act as a Biomarker for Cardiovascular Diseases?
Quick and reliable diagnostics are the key to controlling many diseases, including cardiovascular disease. Biomarkers ar ...
MAY 06, 2021
Clinical & Molecular DX
Sweat Sensor Can Tell If a Storm's Coming
MAY 06, 2021
Sweat Sensor Can Tell If a Storm's Coming
A surge of pro-inflammatory cytokines, intense, and sustained inflammation leading to organ damage and a high risk of de ...
JUN 24, 2021
Clinical & Molecular DX
Test Lets Cancer Patients Track Whether Their Treatment Is Working in Real Time
JUN 24, 2021
Test Lets Cancer Patients Track Whether Their Treatment Is Working in Real Time
Researchers from Singapore have created the ExoSCOPE, the world’s first blood test for tracking whether or not a p ...
AUG 04, 2021
Clinical & Molecular DX
Fear of Smells Could Help Diagnose Migraines in Kids
AUG 04, 2021
Fear of Smells Could Help Diagnose Migraines in Kids
  A new study suggests the intense dislike of pungent smells and odors could be a diagnostic marker for migraines a ...
AUG 09, 2021
Genetics & Genomics
Middle Eastern Data Fills in Some Knowledge Gaps on Human Genetics
AUG 09, 2021
Middle Eastern Data Fills in Some Knowledge Gaps on Human Genetics
Although the human genome has basically the same genes from one person to the next, there is a huge amount of variation ...
SEP 01, 2021
Clinical & Molecular DX
Will Childhood Cancer Survivors Go On to Have Broken Hearts?
SEP 01, 2021
Will Childhood Cancer Survivors Go On to Have Broken Hearts?
Patients are seven times more likely to have a heart attack or stroke than the general population after receiving treatm ...
Loading Comments...