About Careers MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

Genes That Cause Lysosomal Storage Disorder Linked To Parkinson’s

by Julia Samuel on November 15, 2017 at 6:59 PM
Font : A-A+

Genes That Cause Lysosomal Storage Disorder Linked To Parkinson’s

A group of lysosomal storage disorder genes is potential major contributors to the onset and progression of Parkinson's disease.

"In recent years, defects in the glucocerebrosidase (GBA) gene have been identified as significant risk factors for Parkinson's disease. Deficiencies in this gene also are known to cause Gaucher disease, a lysosomal storage disorder," said first author Dr. Laurie Robak, instructor of molecular and human genetics at Baylor College of Medicine.

Advertisement


The lysosomes are sac-shaped structures inside all cells that are in charge of clearing the waste produced by the cells. The sacs contain enzymes that degrade cellular waste into its constituent components, which the cell can recycle or discard. When lysosomes fail and cellular waste accumulates, disease follows. Gaucher disease is one of about 50 lysosomal storage disorders.

"Individuals with Gaucher disease can have family members with Parkinson's disease," Robak said.

"People who carry one defective copy of the GBA gene have a 5- to 8-fold increase in the risk of having Parkinson's disease later in life. In addition, another gene called SMPD1 related to lysosome storage disorders is emerging as a new risk factor for Parkinson's disease."
Advertisement

In this study, the researchers investigated whether changes in lysosome storage disorder genes, in general, could be linked to risk for Parkinson's disease. They compiled a list of 54 genes involved in lysosome storage disorders and determined whether a population with Parkinson's disease was enriched for defective forms of these genes.

Genetics links pediatric condition to risk for a disease that usually affects adults

Lysosomal storage disorders are predominantly diagnosed in children. Thanks to the combined expertise of adult neurologists specializing in Parkinson's disease and both pediatricians and geneticists focusing on childhood lysosomal disorders, the research team was able to make a connection between childhood conditions and the risk for Parkinson's disease later in life.

"We studied the largest Parkinson's disease genetic dataset currently available and found that, although each of the damaging mutations within these genes is individually uncommon, they are common as a group within the Parkinson's cohort," said corresponding authors Dr. Joshua Shulman, assistant professor of neurology, neuroscience and molecular and human genetics at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital.

The researchers found at least one of the damaging mutations in more than half of the cohort. Twenty percent carry more than one damaging mutation.

"Although more research remains to be done, these data suggest the interesting possibility that damage to the lysosome might be at the core of Parkinson's disease," Shulman said. "It might be possible that Parkinson's disease and lysosomal storage disorders have similar fundamental biological mechanisms."

"Better understanding the genetics of Parkinson's disease is important because it can lead to improved diagnosis, more insights on how the disease develops and progresses and perhaps suggest new therapies," Robak said.

Source: Eurekalert
Advertisement

Advertisement
Advertisement

Recommended Reading

Latest Genetics & Stem Cells News

A Ray of Hope: Adrenal Hyperplasia may Get a Cure Soon
Scientists have developed the first humanized mouse model for a rare hereditary condition.
Placenta Joins the Brain in Determining Genetic Risk of Schizophrenia
A recent study discovered that the placenta, rather than only the brain, is crucial in determining the genetic risk of schizophrenia.
Scientists Discover Gene Responsible for Severe Facial Defects
FOXI3 gene was found to be involved in Goldenhar syndrome, one form of developmental disorder, revealed research.
Beyond the Blueprint: Understanding the Role of Epigenetics
Contrary to previous beliefs, genes may not be fixed and can be influenced by environmental factors and lifestyle choices, according to modern scientific research.
Gene Therapy Shows Promise in Inherited Eye Disease Trials
Gene therapy successfully tested on dogs with inherited eye disease is now poised for clinical use in humans.
View All
This site uses cookies to deliver our services.By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use  Ok, Got it. Close
×

Genes That Cause Lysosomal Storage Disorder Linked To Parkinson’s Personalised Printable Document (PDF)

Please complete this form and we'll send you a personalised information that is requested

You may use this for your own reference or forward it to your friends.

Please use the information prudently. If you are not a medical doctor please remember to consult your healthcare provider as this information is not a substitute for professional advice.

Name *

Email Address *

Country *

Areas of Interests