Testing will identify the mutation associated with Wilson’s disease on the island

In people with this disease, copper reaches a life-threatening level.

Juan Carlos Martinez Cruz, a researcher on the study conducted in Puerto Rico. Photo: Journal of Medicine and Public Health. Fabiola Plaza.

Wilson’s disease (WD) is a Genetic disease Progressive, recessive, disabling and life-threatening. Although early diagnosis and treatment can halt progression of the disease and reverse the disability it may cause, diagnosis is often difficult, with a median diagnostic delay of about two years.

It is estimated that at least 98% of Variants that cause WD They are in the ATPase copper transporter beta (ATP7B) gene. Specifically, identification of ATP7B mutations that cause WD in Puerto Rico will allow detection of WD in newborns, as well as Preventive treatments that save livesas confirmed in a study recently published in the literature.

According to the authors associated with the University of Puerto Rico, Mayagüez Campus, and Bella Vista Hospital, TaqMan genotyping assays (a diagnostic test) were performed on 174 randomized volunteers in southwestern Puerto Rico, and for three independent WD cases of rs367956522 and rs140708492 single nucleotide polymorphisms (SNPs).

The reddish-brown glandular material shown here with a copper spot is an excess of lysosomal copper due to the rare autosomal recessive disorder Wilson’s disease. Photo: shutterstock.

The methodology included polymerase chain reaction followed by sequencing that confirmed the genotypes. In addition, bioinformatic analyzes were performed on the ATP7B polymorphism located in the 1000 Genomes Project database for Puerto Rico.

Among the results obtained, it is stipulated that the rs367956522 variant is always inherited with rs140708492, but not the other way around.

All three independent EW variants were homozygous for both single nucleotidebut the evidence strongly suggests that the rs367956522 variant is pathogenic (gene-altering).

On the other hand, the database revealed only one other potentially pathogenic variant of ATP7B, rs191312027. It is stipulated that both variables together may be responsible for causing WD in one in every 14156 Puerto Rico. Both are likely of European descent.

Tests to determine these genotypes are commercially available. The study authors argue that it is Cheap and easy test that can be given to newborns in the state.

It is highly recommended to use Detecting genetic variants rs367956522 and rs191312027 on the island, as they represent all or the vast majority of Electronic warfare situations in Puerto Ricoalthough the researchers acknowledge that there may be other multiple forms associated.

In people with Wilson’s disease, copper is not eliminated properly and accumulates to a life-threatening level. When Wilson’s disease is diagnosed early, it can be treated, and many people live normal lives.

Access the study here.