A rare state in Brazil popular for cousin’s marriage

Before Sylvana Santos arrived in the small town of Serrinha Dos Pintas more than 20 years ago, the residents did not imagine why so many local children lost the ability to walk.

Less than 5,000 people live in a remote town in the northeast of Brazil, and where the biologist and geneticist Santos identified and called a previously unknown condition: SPOan syndrome.

The syndrome caused by a genetic mutation affects the nervous system gradually weakens the body. It appears only when the changed gene is inherited from both parents.

Santos’ research was noted for the first time when the disease was described anywhere in the world. For this and later work, it was called one of the 100 most influential BBC women in 2024.

Before Santos arrived, the families had no explanation for their children. Today, residents are confidently talking about SPOan and genetics.

“She gave us a diagnosis we never had. After the study, help came: people, financing, wheelchairs,” says Markinhos, one of the patients.

Where Santos in Sana -Paulu, the largest and rich city of Brazil, many of its neighbors were members of the same enlarged family, originally from Serrinha. Many were cousins ​​of varying degrees, married to each other.

They said Santos that many people in their hometown could not walk, but no one knew why.

One of the neighbors’ daughters, Zirling, suffered from a debilitating state: as a child, her eyes were moving involuntarily and over time, she lost her strength in the limbs and she needed to use a wheelchair, requiring help even the simplest tasks.

Years of investigations will lead to Santos and a research group to determine them as symptoms of a disciple syndrome.

They will continue to find 82 other cases worldwide.

At the invitation of the neighbors, Santos visited Serrinho on vacation. She describes her arrival as an entry into the “world of one’s own” -not only from the lush landscapes and species to the mountains, but also from what seemed a noticeable social coincidence.

The more she went and talked to the locals, the more surprised how widespread the marriages between the cousins.

Geographic isolation of Serrini and little internal migration means that many of the population is connected, making marriage between cousins ​​much more likely and more socially acceptable.

About 10% were estimated between relatives worldwide in the early 2010s. Later data show that the speed varies compared to more than 50% in countries such as Pakistan, up to 1-4% in Brazil and less than 1% in the US and Russia. Experts say most children born in cousin pairs.

But these marriages face a higher risk when a harmful genetic mutation is transmitted through the family.

“If the couple is not related, the likelihood of having a child with rare genetic disorder or disabilities is about 2-3%. For cousins, the risk increases to 5-6% by pregnancy,” explains Luzvan Costa Fire from the Federal University of Brazil in Rio -Grande -Sol.

The 2010 study led by Santos showed that more than 30% of the couples in Serrin were linked, and in the third of them there was at least one child with disabilities.

Santos sought to find a diagnosis for the residents of Serrinha, and she started planning a detailed genetic study, requiring several trips and eventually, which led to moving to the region.

In the early years of the study, she traveled many times from 2000 km to the San Paul. She collected DNA samples from door to door, talking to the locals for coffee and collecting family stories, constantly trying to find a mutation, causing the disease.

What was supposed to be three months of field work has turned into years of dedication.

All this led to the publication in 2005. A team study, which revealed the availability of SPOan in the Brazilian outback.

The Santos team found that the mutation involves the loss of a small fragment of the chromosome, which causes the gene to redo key protein in brain cells.

“They said it came from Maximian, a woman in our family,” recalls Lolooy’s farmer, whose daughter has a rescue.

Lolô, who is now 83, married a cousin and never left Serrinho. He still strives for cattle and relies on the family to take care of Renan, who fights daily tasks.

But the genetic mutation behind SPOAN is much older than the legend of old Maximian: it probably arrived more than 500 years ago with early European settlers in the northeast Brazil.

“Studies of the sequence show a strong European ancestry in patients, supporting the records of the Portuguese, Dutch and Seford Jewish presence in the region,” Santos says.

The theory gained force after two cases of banal cases were found in Egypt, and further studies have shown that the cases of Egypt also divided the European lineage, indicating the common origin in the Iberian Peninsula.

“It probably came to the relevant seford Jews or the swamp escaping from the Inquisition,” Santos says. She believes that more cases can exist globally, especially in Portugal.

Although there was little progress against treatment, the tracking of patients brought some changes. The renian recalls, as it was called “cripples”. Now they just say there is a Spoan.

The wheelchairs brought not only independence, but also helped to prevent deformation – in the past, many remained simply lie in bed or on the floor.

As you move, physical restrictions deteriorate with age and 50, almost all patients become completely dependent on the caregivers.

This is the case for children of Inessa, who are among the oldest in Serrin. Chiquinho, 59, can no longer speak, and 46 -year -old Marcinos has limited ability to communicate.

“It’s hard to give birth to a” special “child. We love them equally, but we suffer for them,” says Inessa, who is married to his second cousin.

Larissa Quiro, 25, niece Chikingo and Marcigno, also married a distant relative. She and her husband Saul discovered her common ancestor after a few months of dating.

“In Serrinha Dos Pintos, at heart, we are all cousins. We are associated with everyone,” she says.

Couples such as Larissa and Saul are the focus of the new research project, which is also involved in Santos. Support for the Brazilian Ministry of Health, it will pass 5,000 pairs for genes associated with serious recessive diseases.

The goal is to stop the cousins ​​and help the couples understand their genetic risks, Santos says. Now the university professor, she is also a genetics center and is working to expand testing in the northeast of Brazil.

Although she no longer lives in Serrinha Dos Pintos, every visit feels like returns home.

“It’s like Santos is a family,” Inessa says.