OCT 07, 2020 7:32 PM PDT

Researchers Confirm Cerebral Palsy Has a Genetic Component

WRITTEN BY: Carmen Leitch

Scientists have confirmed previous studies that have suggested that cerebral palsy has a genetic component. The new findings, which have been reported in Nature Genetics, showed that rare gene mutations can lead to the disorder, which causes a range of symptoms that affect movement.

Emeritus Professor Alastair MacLennan with Mathew Reinersten, from Adelaide, who is an ambassador for the group's cerebral palsy research. / Credit: University of Adelaide

In this work, the researchers assessed genetic material from 250 cerebral palsy patients and their families and another 1,800 healthy families without any affected relatives. Using a fruit fly model, they connected the genetic mutations they identified in cerebral palsy patients to the symptoms of the disease. When flies carried certain mutations, the movement of fly larvae, adults, or both was severely impaired.

This work may help scientists develop a treatment for the disorder, and will help patients and their families make informed decisions about their plans for the future. There may be as high as a ten percent risk of recurrence of the disease in some families. It will also help provide some people with the right answer about why the disease happened to them or their relative.

"Cerebral palsy is a non-progressive developmental movement disorder impacting motor function, which affects approximately one in every 700 births in Australia and a similar number worldwide," said study co-author and Emeritus Professor Alastair MacLennan, AO of the University of Adelaide. "Symptoms range from mild to severe and can include intellectual disability. Historically, cerebral palsy was considered largely the result of perinatal asphyxia - decreased oxygen to the baby's brain at birth, however, this has only been found in eight to ten percent of cases."

This work will help clinicians and scientists get a more accurate picture of the disorder.

"Eliminating other known causes, including premature birth and trauma at birth, this leaves a large number of cases - as many as 40 percent in some studies - with an unknown origin. Where previous studies have indicated underlying genetic causes in cerebral palsy, this study is the largest to date and includes in-depth statistical modeling and new controls to overcome limitations of earlier research," added MacLennan.

"As little as thirty years ago we were very limited in treatments for cerebral palsy, and the outlook for anyone diagnosed was grim," said study co-author and Professor Jozef Gecz, Head of Neurogenetics at the University of Adelaide. "As we come to recognize the role of genetics in cerebral palsy, we open the door for new treatments, earlier diagnosis, and intervention, which could lead to greatly improved quality of life.

"The more we understand about the role of genetics in causing cerebral palsy, the closer we get to learning how to prevent it," Gecz said.

Sources: AAAS/Eurekalert! via University of Adelaide, Nature Genetics

About the Author
  • Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
SEP 21, 2020
Neuroscience
Scientists Compare Structural and Functional Evolution with First Atlas of Cavefish Brains
SEP 21, 2020
Scientists Compare Structural and Functional Evolution with First Atlas of Cavefish Brains
Cavefish are fish that dwell in caves, unable to access the outside world. Often, they were separated from their closest ...
OCT 11, 2020
Genetics & Genomics
Using Terahertz Waves to Control Gene Expression
OCT 11, 2020
Using Terahertz Waves to Control Gene Expression
Terahertz waves sit in the far infrared/microwave portion of the electromagnetic spectrum, and can be generated by power ...
OCT 19, 2020
Cancer
Using qPCR to Diagnose Common Cancer Mutations in Lung Cancer
OCT 19, 2020
Using qPCR to Diagnose Common Cancer Mutations in Lung Cancer
Cancer is a disease characterized by DNA mutations. These mutations, while sometimes small, can cause havoc in a cell&rs ...
NOV 07, 2020
Genetics & Genomics
How the Suction Cups on Octopus Arms Detect Their Surroundings
NOV 07, 2020
How the Suction Cups on Octopus Arms Detect Their Surroundings
Scientists have taken a close look at the physiology of the octopus, creatures that are ancient and unique. Their arms c ...
NOV 08, 2020
Genetics & Genomics
Drug-Resistant Microbes Persist in Hospitals After Deep Cleaning
NOV 08, 2020
Drug-Resistant Microbes Persist in Hospitals After Deep Cleaning
Researchers have found that drug-resistant bacteria can hang around even after deep cleaning. They used genome sequencin ...
NOV 23, 2020
Genetics & Genomics
Unusual Mutation Acts as a Kind of Gene Therapy
NOV 23, 2020
Unusual Mutation Acts as a Kind of Gene Therapy
Clinicians have identified a patient with a rare inherited disorder that disrupts the production of fresh blood cells, a ...
Loading Comments...