Is the Environment or Vaccinations Responsible for Lesch Nyhan Syndrome?

Written by:  • Edited by: Leigh A. Zaykoski
Published Aug 31, 2010
• Related Guides: DNA

Is the environment or vaccinations responsible for Lesch Nyhan Syndrome? What are the environmental agents that can possibly cause Lesch Nyhan syndrome? Are vaccinations one of the direct causes of this genetic disorder? These questions on LNS are answered in this article.

Lesch Nyhan Syndrome

Lesch Nyhan syndrome, or LNS, is a genetic disorder that is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) due to the mutations of the HPRT1 gene. The enzyme is involved in the production of purines, a vital component of DNA and RNA. A rare disorder affecting children, Lesch Nyhan syndrome affects only one out of 380,000 live births.

Because the HPRT1 gene is located on the X chromosome, LNS is an X-linked inherited disease. Hence, the disorder mostly affects male babies upon birth. There are very rare cases of females suffering from this disorder. Generally, it is an X-linked recessive disease with the mother as the carrier and the son as the sufferer. Interestingly, the disorder can arise from a new mutation termed as de novo, with the sufferer having no family history of the disease. This type accounts for almost a third of all cases of the syndrome.

Environmental Causes

The genes contain the instructions necessary for the normal function of the cells. When mutation happens, the DNA sequence of the gene is permanently altered and this can have negative consequences on the overall function of the cells. In the case of HPRT1 mutation, there are two ways in which the DNA is mutated. It can be inherited, as with the case of the carrier mother passing the mutated gene to the son. It can also be acquired due to some environmental factors. As mentioned earlier, one-third of all cases of Lesch Nyhan syndrome are not inherited but instead arise from de novo or new mutations. Among the possible causes of de novo mutations are environmental agents.

As far as HPRT gene is concerned, in-depth research has been conducted on the DNA mutation as caused by tobacco smoke. As reported in the journal "Nature Medicine," second-hand smoke can induce genetic mutations in the developing baby in the womb. Specifically, infants born to mothers exposed to passive cigarette smoke are more prone to mutations in the HPRT gene compared to babies from unexposed mothers.

Certain cases of HPRT mutations that occur de novo were theorized to be manifestations of genomic instability brought about by irradiation to the cells. Information on whether this type of mutation eventually leads to LNS has not yet been established.

Due to the rarity of the disease, the information on the environmental causes is extremely limited as of this time of writing. Further research is already being implemented to shed light on the subject.

Vaccinations: Is it a Cause of LNS?

Vaccinations had been implicated as a direct cause of various genetic diseases, including LNS. This is however a myth and unfounded based on recent scientific retrospective investigations.

As hyped by media in the Western world, vaccination for petrussis was thought to be the direct cause of encephalopathy with intellectual impairment and refractory seizures. An Australian study revealed findings that alleged vaccine encelopalopathy could be a genetically determined epileptic encelopalopathy that arises de novo. Furthermore, the study was conclusive that the brain disorder was not directly triggered by the vaccine for pertussis.

Another study by Berkovic and company studied 14 patients with alleged vaccine encelopalopathy with onset of seizures within 72 hours after vaccination. They found that 78 percent of the subjects had mutations in the SCN1A gene. Thus, the majority of these patients had clear genetic causes for the disease. In addition, vaccination cannot be blamed for causing the gentic mutation. According to the research, avoidance of immunization because it can potentially trigger mutation of SCN1A mutation or other types of genetic mutations does not make biological sense.

These studies hope to provide major implications for the public acceptance of vaccination as a safe way to prevent diseases. Like other genetic disorders discussed above, LNS cases due to de novo mutation of HPRT1 gene do implicate immunization as a direct cause. So, is the environment or vaccinations responsible for Lesch Nyhan syndrome? In this case, environmental factors play a role in this disease but reputable studies show that vaccination does not cause LNS.

References

National Research Council (U.S.). Committee to Assess Health Risks from Exposure to Low Level of Ionizing Radiation, 2006

http://en.wikipedia.org/wiki/Lesch%E2%80%93Nyhan_syndrome

http://www.lesch-nyhan.org

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603512/

http://www.ncbi.nlm.nih.gov/pubmed/16713920


 
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