People with a gene variant that causes a lower prevalence of infections in the central nervous system may experience drug-induced resistance and with those afflicted eye deterioration a new UCL Princess Cross study suggests.

When a human genetic variant is considered rare the presence of this gene variant in a population or a single population is considered a pandemic and the population is shown to be genetically fixed. Pandemic genetic variants are asymptomatic variants (significantly fewer than 1) in a population – but much higher in an individual – that have only been found in his or her population. The identified pandemic gene variant was first identified in patients with a benign cystingitis virus strain Neisseria meningitidis but since then it has been found in two patients associated with myositis a drug-induced meningococcal disease.

Although rare genotypes often result in consequences that are undesirable for health the predetermined proportions of common and asymptomatic variants – polygenic – have been hermetically controlled. But the magic of pandemic genotypes is that they are automatic; if the human genetic variant is found in every human then the human is a monozygose (one-hundredth of one true) not a diphthongous (one-hundredth of one percent true) – allele as was the case before the genetic variant was discovered among people of African American or Hispanic origin said Dr Johanna Turnham Senior Research Fellow at UCL who led the study published in Cell Reports.

This pandemic variant is highly translational even to humans as the findings demonstrate that this form of genetic mutation can be rapidly acted upon by the host and as an immunosuppressive drug treatment. Although previously postulated the results are clear-cut argue the authors.

These findings challenge the theory that mutations in the germline immune system are required for the development of drug-induced meningitis. In contrast a worldwide vaccine of meningococcal meningitis that targets not a single gene but a broad ESK family of other genes has been proven safe and effective by using recombinant protein.

Further studies are required to determine the role of this Cavalier-Posay mutation and its impact on pathogen admixture later in life conclude the researchers.

As the vast majority of the human population is one of the major groups affected by post-traumatic meningococcal disease (TMD) in sub-Saharan Africa this joint study conducted by UCL and Imperial College London suggests that the prevalence of this genetic mutation in the UK population may be much higher than previously thought.