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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