Defects in cell's 'waste disposal system' linked to Parkinson'sNovember 14, 2017
An international study has shed new light on the genetic factors associated with Parkinson's disease, pointing at a group of lysosomal storage disorder genes as potential major contributors to the onset and progression of this common neurodegenerative disorder. The study appears in the journal Brain.
"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.
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."
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.
Baylor College of Medicine
Related Genetics Articles:
Evolution is a difficult concept for many students at all levels, however, a study publishing on May 23 in the open access journal PLOS Biology has demonstrated a simple cost-free way to significantly improve students' understanding of evolution at the secondary level: teach genetics before you teach them evolution.
Researchers have undertaken the world's largest genetic study of childhood overgrowth syndromes -- providing new insights into their causes, and new recommendations for genetic testing.
Gene variants could affect food preferences in healthy people, according to a new study.
Osaka University scientists generate a new plasmid-based reverse genetics system for rotaviruses.
A common strategy to create high-yielding plants is hybrid breeding.
A large-scale international study involving more than 300 researchers, published today in Nature, heralds the discovery of 83 genetic variations controlling human height.
Though placid enough to be managed by humans, yaks are robust enough to survive at 4,000 meters altitude.
Researchers at the University of Queensland have contributed to the discovery of three new genes which increase the risk of motor neuron disease, opening the door for targeted treatments.
If you've ever seen a friend have good results from a diet but then not been able to match those results yourself, you may not be surprised by new findings in mice that show that diet response is highly individualized.
Because of their similarities to people, using new technology in pigs turn up as a valuable alternative to rodent models of cancer.
Related Genetics Reading:
The Gene: An Intimate History
by Siddhartha Mukherjee (Author)
THE #1 NEW YORK TIMES BESTSELLER
A New York Times Notable Book
A Washington Post and Seattle Times Best Book of the Year
From the Pulitzer Prize-winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle).
“Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for... View Details
Genetics: A Conceptual Approach, 5th Edition
by Benjamin A. Pierce (Author)
NOTE: Access Code is NOT INCLUDED
With Genetics: A Conceptual Approach, Ben Pierce brings a master teacher’s experiences to the introductory genetics textbook, clarifying this complex subject by focusing on the big picture of genetics concepts and how those concepts connect to one another. The new edition features Pierce's signature writing style, relevant applications, student-friendly art, and emphasis on problem-solving, while incorporating the latest trends in genetics research. The new edition text and LaunchPad media work closely together for a... View Details
Genetics For Dummies
by Tara Rodden Robinson (Author)
A plain-English guide to genetics
Want to know more about genetics? This non-intimidating guide gets you up to speed on all the fundamentals and the most recent discoveries. Now with 25% new and revised material, Genetics For Dummies, 2nd Edition gives you clear and accessible coverage of this rapidly advancing field.
From dominant and recessive inherited traits to the DNA double-helix, you get clear explanations in easy-to-understand terms. Plus, you'll see how people are applying genetic science to fight disease, develop new products, solve crimes . . . and even... View Details
Genetics (Quick Study Academic)
by Inc. BarCharts (Author)
The basic principles of genetics.
Reference for any student studying genetics.
Genetics: From Genes to Genomes, 5th edition
by Leland H. Hartwell (Author), Michael L. Goldberg (Author), Janice A. Fischer (Author), Leroy Hood (Author), Charles F. Aquadro (Author)
Genetics: From Genes to Genomes is a cutting-edge, introductory genetics text authored by an unparalleled author team, including Nobel Prize winner, Leland Hartwell. The 5th edition continues to build upon the integration of Mendelian and molecular principles, providing students with the links between the early understanding of genetics and the new molecular discoveries that have changed the way the field of genetics is viewed.
Users who purchase Connect Plus receive access to the full online ebook version of the textbook as well as SmartBook. View Details
Genetics: A Conceptual Approach
by Benjamin A. Pierce (Author)
Note: This is a Standalone book and does not include Access Card/Code.
With Genetics: A Conceptual Approach, Ben Pierce brings a master teacher’s experiences to the introductory genetics textbook, clarifying this complex subject by focusing on the big picture of genetics concepts and how those concepts connect to one another. The new edition continues the Pierce tradition of pedagogical excellence and scientific currency.
Genetics: Analysis and Principles
by Robert J. Brooker Professor Dr. (Author)
NOTE: This book is a standalone book and doesn't include an access code.
Genetics: Analysis and Principles is a one-semester, introductory genetics textbook that takes an experimental approach to understanding genetics. By weaving one or two experiments into the narrative of each chapter, students can simultaneously explore the scientific method and understand the genetic principles that have been learned from these experiments.
Rob Brooker, author of market leading texts in Genetics and Intro Biology for majors, brings his clear and accessible writing... View Details
The Epigenetics Revolution: How Modern Biology Is Rewriting Our Understanding of Genetics, Disease, and Inheritance
by Nessa Carey (Author)
Epigenetics can potentially revolutionize our understanding of the structure and behavior of biological life on Earth. It explains why mapping an organism's genetic code is not enough to determine how it develops or acts and shows how nurture combines with nature to engineer biological diversity. Surveying the twenty-year history of the field while also highlighting its latest findings and innovations, this volume provides a readily understandable introduction to the foundations of epigenetics.
Nessa Carey, a leading epigenetics researcher, connects the field's arguments to such... View Details
The Cartoon Guide to Genetics (Updated Edition)
by Larry Gonick (Author), Mark Wheelis (Author)
Have you ever asked yourself:
Are spliced genes the same as mended Levis?
Watson and Crick? Aren't they a team of British detectives?
Plant sex? Can they do that?
Is Genetic Mutation the name of one of those heavy metal bands?
Asparagine? Which of the four food groups is that in?
Then you need The Cartoon Guide to Genetics to explain the important concepts of classical and modern genetics—it's not only educational, it's funny too!View Details
Genetics: Genes, genomes, and evolution
by Philip Meneely (Author), Rachel Dawes Hoang (Author), Iruka N. Okeke (Author), Katherine Heston (Author)
Recent advances that allow scientists to quickly and accurately sequence a genome have revolutionized our view of the structure and function of genes as well as our understanding of evolution. A new era of genetics is underway, one that allows us to fully embrace Dobzhansky's famous statement that "Nothing in biology makes sense except in the light of evolution". Genetics: Genes, Genomes, and Evolution presents the fundamental principles of genetics and molecular biology from an evolutionary perspective as informed by genome analysis. By using what has been learned from the analyses of... View Details