Diet may treat some gene mutations

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."

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

Sep 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 ...

Inactive genes surprisingly common in humans

Feb 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 ...

Recommended for you

Stress reaction may be in your dad's DNA, study finds

Nov 21, 2014

Stress in this generation could mean resilience in the next, a new study suggests. Male mice subjected to unpredictable stressors produced offspring that showed more flexible coping strategies when under ...

More genetic clues found in a severe food allergy

Nov 21, 2014

Scientists have identified four new genes associated with the severe food allergy eosinophilic esophagitis (EoE). Because the genes appear to have roles in other allergic diseases and in inflammation, the ...

Brain-dwelling worm in UK man's head sequenced

Nov 20, 2014

For the first time, the genome of a rarely seen tapeworm has been sequenced. The genetic information of this invasive parasite, which lived for four years in a UK resident's brain, offers new opportunities ...

User 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.