Lab identifies key to chromosome variant linked to infertility

KANSAS CITY, Mo. (KCTV/Gray News) — Researchers at a lab in Kansas City believe they have made a breakthrough discovery in understanding infertility.

Researchers at the Stowers Institute for Medical Research have identified, for the first time, the precise fusion point of a chromosome variant that may contribute to infertility and recurrent pregnancy loss in some patients.

The variant — known as a Robertsonian translocation — occurs when two chromosomes fuse into one. People who carry this variant are often healthy but may face an increased risk of infertility or other reproductive issues.

The variant occurs in approximately one in 800 people, scientists said.

A century-old chromosome, newly understood

The Robertsonian chromosome was first identified in 1916 in grasshoppers. More than a century later, Jennifer Gerton, an investigator at Stowers Institute, said her team has now located the specific point of that unusual chromosomal bond.

“I think what is really exciting is with this knowledge, we have new ways to study these chromosomes,” Gerton said.

Scientists used artificial intelligence technology during their research and found that previously overlooked DNA plays a key role in fusion.

“We’re realizing that that’s what’s leading, for instance, to lots of these structural changes in chromosomes that can happen,” Gerton said. “So, I think it’s really given us appreciation for this junk DNA and how important it is.”

Gerton said the discovery also has implications beyond infertility.

“We’re understanding something about how sets of chromosomes can evolve, and this could affect reproduction,” she said, adding that the variant can “create this infertility and the propensity for Down Syndrome.”

Genetic counselors take note

Alex Widman, a genetic counselor at Blue Sky Fertility, said Robertsonian translocations are a known factor in her field.

“I would say it’s definitely common for me to counsel about Robertsonian translocations,” Widman said. “Around 2% to 5% of patients with recurrent pregnancy loss would have a Robertsonian [translocation].”

Widman said the new research from Stowers Institute opens new possibilities for her work with patients.

“It opens the door for a lot of other future studies, so that we can hopefully better characterize them and maybe even counsel patients a little more precisely,” Widman said.

One family’s long journey

Amber and Alex Fletcher spent six and a half years trying to have a child. The Kansas City couple went through IVF, several egg transfers, adopted embryos, additional testing and four miscarriages.

“It’s just a lot of broken expectations for what you expected life to look like,” Amber Fletcher said.

Despite repeated attempts to find answers, the couple said they never received a clear explanation.

“[Doctors would tell us] we don’t know for yours, it’s still considered unexplained,” Amber Fletcher said.

Their son, William, was born after six and a half years.

“I think that anything we can do to help understand why miscarriages happen and prevent them is amazing, because that heartbreak is not something I would wish on anybody,” Amber Fletcher said.

What patients can do now

A blood test can identify whether a person carries the Robertsonian chromosome variant. Patients who have experienced unexplained infertility are encouraged to speak with a doctor or genetic counselor.