Diet may treat some gene mutations

April 9, 2012, Genetics Society of America

Scientists have moved a step closer to correcting some unhealthy gene mutations with diet, according to a new research report appearing in the April 2012 issue of the journal Genetics. Researchers from the University of California, Berkeley, determined variations and responses to vitamin treatment in the human cystathionine beta synthase gene, which when defective, causes the disease homocystinuria, an inherited metabolic disorder sometimes treatable with vitamin B6. After the analysis, scientists correlated specific gene mutations with severity of the disease, ranging from perfectly healthy and functional to severe and untreatable. Although the current study focused on homocystinuria, testing the effects of naturally occurring gene variations using surrogate organism genetics can be applied to other inherited disorders, such as neural tube defect, cleft palate, and blindness.

"The era of personal genome sequences is upon us, but there is a growing gap between the ability to sequence human genomes and the ability to understand the significance of variation in genome sequences," said Jasper Rine, Ph.D., the principal investigator of this research in the Department of at the California Institute of Quantitative Biosciences at the University of California, Berkeley. "This study demonstrates one way to close the gap; the data separate gene variants into distinct classes, including a group amenable to dietary intervention."

To make their determination, scientists "swapped" the cystathionine beta synthase gene of baker's yeast with the gene from humans to test which variants were healthy, treatable, or untreatable with additional vitamin B6. As a result, the study clarified the function of 84 DNA sequence variants in this gene, which will help physicians more effectively treat patients based on their particular genotypes. In addition, this approach opens doors for future studies examining other human genes that similarly cross over between humans and yeast.

"We may have the DNA sequence of the human genome, but we're still trying to figure out what it means," said Mark Johnston, Editor-in-Chief of the journal GENETICS. "This study moves us a step closer toward better understanding the genetic variability among people. More immediately, knowledge of these gene mutations will help physicians prescribe treatment based on genotype rather than outward symptoms or trial and error."

Explore further: Mouse genetic blueprint developed

More information: Jacob A. Mayfield, Meara W. Davies, Dago Dimster-Denk, Nick Pleskac, Sean McCarthy, Elizabeth A. Boydston, Logan Fink, Xin Xin Lin, Ankur S. Narain, Michael Meighan, and Jasper Rine. Surrogate Genetics and Metabolic Profiling for Characterization of Human Disease Alleles, Genetics, April 2012 190:1309-1323. http://www.genetics.org/

Related Stories

Mouse genetic blueprint developed

September 14, 2011
Researchers have developed a valuable mouse genetic blueprint that will accelerate future research and understanding of human genetics. The international team, led by researchers at the Wellcome Trust Sanger Institute and ...

When is a gene not a gene? New catalog helps identify gene variations associated with disease

February 16, 2012
A high-quality reference catalogue of the genetic changes that result in the deactivation of human genes has been developed by a team of researchers. This catalogue of loss-of-function (LoF) variants is needed to find new ...

Inactive genes surprisingly common in humans

February 16, 2012
(Medical Xpress) -- Every person carries on average 100 variants that disable genes - yet very few suffer ill effects, an international team of researchers led by Yale University and Wellcome Trust Sanger Institute report ...

Experts propose new unified genetic model for human disease

September 29, 2011
Based on a wide variety of genetic studies and analysis– from genome wide association studies looking for common variations in the DNA of many people with complex diseases to the sequencing of specific gene mutations ...

Recommended for you

How incurable mitochondrial diseases strike previously unaffected families

January 15, 2018
Researchers have shown for the first time how children can inherit a severe - potentially fatal - mitochondrial disease from a healthy mother. The study, led by researchers from the MRC Mitochondrial Biology Unit at the University ...

Genes that aid spinal cord healing in lamprey also present in humans

January 15, 2018
Many of the genes involved in natural repair of the injured spinal cord of the lamprey are also active in the repair of the peripheral nervous system in mammals, according to a study by a collaborative group of scientists ...

The coming of age of gene therapy: A review of the past and path forward

January 11, 2018
After three decades of hopes tempered by setbacks, gene therapy—the process of treating a disease by modifying a person's DNA—is no longer the future of medicine, but is part of the present-day clinical treatment toolkit. ...

Large-scale study to pinpoint genes linked to obesity

January 10, 2018
It's not just diet and physical activity; your genes also determine how easily you lose or gain weight. In a study published in the January issue of Nature Genetics, researchers at the Icahn School of Medicine at Mount Sinai ...

Identical twins can share more than identical genes

January 9, 2018
An international group of researchers has discovered a new phenomenon that occurs in identical twins: independent of their identical genes, they share an additional level of molecular similarity that influences their biological ...

Hereditary facial features could be strongly influenced by a single gene variant, a new study finds

January 9, 2018
Do you have your grandmother's eyes? Or your father's nose? A new study by the Universities of Oxford and Surrey has uncovered variations in singular genes that have a large impact on human facial features, paving the way ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.