• Gynecology Endometriosis, a disease still quite unknown that affected Marilyn Monroe and suffers from 10-15% of women

  • Oncology A new test that is performed at home detects almost 100% of endometrial cancers

Researchers at Cedars-Sinai Medical Center in Los Angeles, United States, have created a

unique and detailed molecular profile

of

endometriosis

with the goal of helping improve

therapeutic options

for millions of women who suffer from the disease that affects up to 15% of the female population of childbearing age.

Data from this

cell atlas

is published in

Nature Genetic

.

"Endometriosis has been an understudied disease in part due to

limited cellular data

that has hampered the development of effective treatments. In this work, we applied a new technology called single cell

genomics

, which allowed us to profile the

different cell types

that contribute to endometriosis.

disease," explains

Kate Lawrenson

, a co-author of this analysis and an associate professor in the Department of Obstetrics and Gynecology at Cedars-Sinai.

Endometriosis is a condition in which cells of the uterine lining, or cells similar to endometrial tissue, develop

in the wrong places

, primarily in the ovaries, fallopian tubes, and abdominal cavity, although

data from other locations

have also been reported. extra-pelvic.

Data from 400,000 individual cells

The disease affects around

10-15% of women

, usually during their

reproductive years

.

Patients with this disorder may experience chronic pain, infertility, headaches, fatigue, and bowel and bladder dysfunction.

Currently, there are

few suitable treatment options

for patients diagnosed with endometriosis, with surgery being one of the last therapeutic steps.

The team were able to profile endometriosis using state-of-the-art technology that allowed them to collect an immense amount of data from

cells from just 21 patients

, some of whom had the gynecological disorder and others who had the disease already established.

According to Lawrenson, who is also a professor in the Department of Biomedical Sciences and co-director of the Women's Cancer Research Program at this medical institution, one of the main achievements is that an endometriosis

cell atlas

has been generated after analyzing almost

400,000 cells .

individuals

of these patients.

Through genomic analysis, molecular differences have been identified between the main

subtypes of endometriosis

, including peritoneal disease and ovarian endometrioma.

The researchers hope that this new database, which they consider critical, will lead to

better care,

since despite its high prevalence, the etiopathogenesis of endometriosis is still largely

unknown

.

"Endometriosis is visualized when the lesion is already established, but we do not know what factors drive it," explains Graciela González Hernández, vice president of the Department of Computational Biomedicine at Cedars-Sinai, who emphasizes that the approaches in the growth factors of the vascular endothelium " They have not materialized in the clinic. Now we are investigating the

influence

of possible

immunological and genetic alterations

".

The researchers stress that no

biological markers are currently available either.

Added to this is the fact that the common symptom,

dysmenorrhea

, is somewhat non-specific and makes differential diagnosis difficult.

Thus, the

precise diagnosis

of endometriosis can be delayed, on average, by

seven or eight years .

"Identifying these cellular differences at such a detailed level should allow us to better understand their

origins

,

natural progression,

and potential

therapeutic targets

for the approach," said

Matthew Siedhoff

, vice chair of the Department of Gynecology at Cedars-Sinai, and co-author of the study.

Currently, according to Siedhoff, gaps in knowledge of the disease limit clinicians "to hormonal therapy and surgical excision, with variable success and frequent disease recurrence."

Cancer-like behavior

Data from other research have associated endometriosis with a

slightly increased risk

of developing certain types of

cancer

.

What's more, they have often observed similarities in the way disorders operate.

Regarding the supposed association with an increased risk of

ovarian cancer

, González Hernández recalls that

it has not been proven

: "It has been said that this risk appears in one percent of cases of ovarian endometriosis, but it is likely that the

malignant focus existed from a beginning

and go unnoticed.

Lawrenson relates that the disease can travel throughout the body, so in many ways it behaves like cancer.

But, he raises a question: why does endometriosis

behave like cancer

and

rarely turn into cancer

?

"Large-scale next-generation sequencing projects have been incredibly helpful in understanding

how cancer works

and designing targeted therapies. We hope you can

do the same for endometriosis

."

Researchers at the Cedars-Sinai Center have already begun using the

new cellular atlas

of endometriosis to test therapeutic targets in a

mouse model of the disease

.

According to Lawrenson, this resource is now available for researchers around the world to use to study specific cell types in which they specialize.

"Hopefully, this use will lead to

more efficient and effective diagnosis and treatment

for patients with this disease."

Knowing how the disease originates, its behavior and, above all,

its extra-pelvic expansion

-an aspect scarcely studied- is, therefore, one of the objectives of multiple international research teams.

At Yale University, New Haven, Connecticut, United States, for example, they have detected endometrial cells in

brain tissue

.

To do this,

healthy

mouse models were subjected to

simulated surgery

to mimic the intervention of a group of mice suffering from the disease.

When tissue samples from the treated mice were examined after eight weeks, they found that sections taken from the brain

tested positive

for endometrial cells in

100% of cases

.

"Since migration of cells into the brain occurred in all induced mice, this suggests that

endometriosis sheds stem cells

, which then travel to

organs outside the pelvis,"

the Yale team noted.

cardiac risk

Other findings are related to cardiac abnormalities.

A study published in Circulation, led by Fan Mu, of Brigham and Women's Hospital, Boston, in the United States, suggested that women with endometriosis, especially those

under the age of 40

, may be at increased

risk of heart disease,

noting that the

Surgical treatment

of endometriosis could influence the increase in cardiac risk by

inducing early menopause

.

In this study, they reported that, compared with women without endometriosis, those affected had a 1.3 times higher probability of requiring

surgery or angioplasty with stent

;

the risk of

myocardial infarction

was 1.52 times higher and that of

angina pectoris

1.91 times higher.

According to the criteria of The Trust Project

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