Sex, Genetics, and the Relationship Between the Two in Pulmonary Arterial Hypertension – AJMC.com Managed Markets Network
Posted: December 30, 2020 at 8:55 pm
Although research has cemented BMPR2 mutations as having associations with the development of pulmonary arterial hypertension, the germline mutations are not the only culprit.
Pulmonary arterial hypertension (PAH) is a multifaceted condition, consisting of interactions between estrogens, estrogen metabolites, and BMPR2 signaling, according to new research.
Although research has cemented BMPR2 mutations as having associations with the development of PAH, the germline mutations are not the only culprit, say the researchers, who argue that other, additional genetic and environmental factors play a role. Mutations in several components of the BMPR2 signaling pathway have also been linked to the development of PAH, including ALK1, SMAD8, BMP9, and CAV1.
Despite the strong association between BMPR2 mutations and the development of PAH, and despite the high frequency of BMPR2 mutations in heritable PAH, having a BMPR2 mutation alone is not sufficient; heterozygous carriers of deleterious BMPR2 mutations only have an approximately 20% lifetime risk of disease penetrance, explained the researchers. Decades of investigation have revealed that there are likely multiple genetic and environmental second hits that may be necessary to spur PAH development in the setting of a deleterious BMPR2 mutation.
The intricacies of PAH can be highlighted by the role estrogen and estrogen metabolites play in the condition. For example, some animal models have suggested that the 2 protect against PH in the presence of other provoking factors while human studies have suggested that female predominance actually heightens the risk of PAH. And while females who carry deleterious BMPR2 variants are more likely to develop PAH, they are less likely to have severe disease than men.
However, the researchers argue that the role of estrogen and estrogen metabolites does not paint a full picture of the sex differences in PAH. These differences include those in right ventricular (RV) adaption to chronic pulmonary hypertension, with some research suggests that females might have better RV function than males. According to the researchers, other sex-driven differences, like testosterone and progesterone and nonhormonal sex effects, may contribute to the impact of sex.
Similar to the BMPR2 signaling cascade, essential components of estrogen signaling pathways are expressed in the [endothelial cells], vascular [smooth muscle cells], and fibroblasts responsible for vascular remodeling and the development of PAH, wrote the researchers, noting that estrone, estradiol, and estriol, along with their metabolites signal through estrogen receptors ER and ER and the newly discovered G-protein-coupled receptor.
In their paper, the researchers look at the relationship between estrogen and BMPR2, writing that there have been inclinations that baseline BMPR2 expression and signaling may be reduced in females. They suggest that this deficiency in BMPR2 expression may be that second hit to spur the development of PAH. However, they caveat that the relationship between estrogen and BMPR2 is complex and may be dependent on several factors, such as age, menopausal status, cell type studied, and dose responses and time courses.
Reference
Cirulis MM, Dodson MW, Brown LM, Brown SM, Lahm T, Elliot G. At the X-roads of sex and genetics in pulmonary arterial hypertension. Genes (Basel). Published online November 20, 2020. doi:10.3390/genes11111371
See the article here:
Sex, Genetics, and the Relationship Between the Two in Pulmonary Arterial Hypertension - AJMC.com Managed Markets Network
- President Biden, stop working to reverse the rights of half of America - msnNOW - February 19th, 2021
- Noninvasive probe monitors health of 'friendly' gut bacteria - Medical News Today - February 19th, 2021
- Suza: Self-reflection strengthens diversity and inclusion | Opinion | iowastatedaily.com - Iowa State Daily - February 19th, 2021
- [Full text] Extra-Hepatic Hepatoid Carcinomas in Female Reproductive System: Three | CMAR - Dove Medical Press - February 17th, 2021
- The Importance of Seed Banks for Our Future - Agweb Powered by Farm Journal - February 17th, 2021
- Women Changing the Face of Science in the Middle East and North Africa - The Media Line - February 17th, 2021
- Menstrual cycles and lunar cycles: Is there a link? - Medical News Today - February 17th, 2021
- A new candidate vaccine for human brucellosis based on influenza viral vectors: a preliminary investigation for the development of an immunization... - February 17th, 2021
- Gene editing to enhance production in developing nations - Poultry World - February 11th, 2021
- Meet the all-female team at this Dubai school's science department - Gulf News - February 11th, 2021
- Awards 2020: Pig Farmer of the Year - Farmers Weekly - FarmersWeekly - February 11th, 2021
- Meet the women on the frontline of the fight against coronavirus - Happiful Magazine - February 11th, 2021
- Black Catholic Is Trailblazer in Science; She Has Been Geneticist for 56 Years - The Tablet Catholic Newspaper - February 11th, 2021
- Top quality Limousins head to Dungannon - Farming Life - February 11th, 2021
- [Full text] The Recurrent Liver Disorder of a Pregnant Mother: Intrahepatic Choles | IMCRJ - Dove Medical Press - February 11th, 2021
- In a Weird Twist, Sperm Have Been Caught Poisoning Other Sperm to Get Ahead in Mice - ScienceAlert - February 6th, 2021
- Veteran Biotechnology Executive Elizabeth Cormier-May Recruited to Lead Women's Health Startup Mammogen Inc. - PRNewswire - February 6th, 2021
- Purdue trustees ratify faculty positions, approve new degree programs, award posthumous degree, honor friends of the university - Purdue News Service - February 6th, 2021
- Former WWE Star Tyler Reks Reveals She Is A Woman Named Gabbi Tuft - SEScoops - February 6th, 2021
- [Full text] Association Between the SLC1A1 Glutamate Transporter Gene and Obsessiv | NDT - Dove Medical Press - February 6th, 2021
- Transvection regulates the sex-biased expression of a fly X-linked gene - Science Magazine - January 27th, 2021
- A growing share of lung cancer is turning up in never-smokers - STAT - January 27th, 2021
- Woodland Park Zoo welcomes their first female Malayan tiger (PHOTOS) | News - Daily Hive - January 27th, 2021
- Saudi women making their mark in science - Arab News - January 19th, 2021
- Cannabis Genetics: Study Reveals Genes Related To Sex Modification In Feminized Plants - Benzinga - January 19th, 2021
- Biden picks geneticist as science adviser, puts in Cabinet - The Associated Press - January 19th, 2021
- Challenging The World! Meet The Saudi Women Scientists - Al-Bawaba - January 19th, 2021
- Low levels of alcohol intake linked to greater risk of atrial fibrillation - Hospital Healthcare Europe - January 19th, 2021
- Everything You Need To Know About Migraines - The Swaddle - January 19th, 2021
- Anorexia nervosa: Symptoms, causes, and treatment - Medical News Today - January 19th, 2021
- Girls and Autism: One of Lynne Malcolm's favourite programs - ABC News - January 19th, 2021
- Bryan Sykes, Who Saw the Ancient Past in Genes, Dies at 73 - The New York Times - January 9th, 2021
- Identical Twins Are More Genetically Different Than We Thought: Study - The Swaddle - January 9th, 2021
- A thematic analysis of experiences of HIV risks among female sex workers in the Yunnan-Vietnam Chinese border region - BMC Blogs Network - January 9th, 2021
- A Look at the Subversive Art of lisabeth Vige Le Brunand the One Gender-Bending Portrait That Has Kept Historians Guessing - artnet News - January 2nd, 2021
- Big rewards for Section II girls as basketball avenues increase - The Daily Gazette - January 2nd, 2021
- 2021 in books: what to look forward to this year - The Guardian - January 2nd, 2021
- What Is the Average Shoe Size for Women? Its Bigger Than You Might Think - Footwear News - December 30th, 2020
- 'Keep calm and develop vaccines': Meet the scientists behind the Oxford jab - Telegraph.co.uk - December 30th, 2020
- IAEA Highlights and Achievements in 2020 a Year in Review | IAEA - International Atomic Energy Agency - December 30th, 2020
- New Year honours 2020: citizens awarded for response to pandemic crisis - The Guardian - December 30th, 2020
- St. Paul authors Fossil Men is a tale of discovery thats anything but old and dry - TwinCities.com-Pioneer Press - December 30th, 2020
- East Idaho ranchers find strength in unified bull auction - Post Register - December 24th, 2020
- Burning sensation in lower abdomen: Causes and treatments - Medical News Today - December 24th, 2020
- World-record mountain goat shot with bow by Kansas native in Alaska - The Topeka Capital-Journal - December 24th, 2020
- How Researchers Hope to Save the Florida Scrub-Jay From an Inbreeding Crisis - National Audubon Society - December 21st, 2020
- Eddie Izzard praised after fans notice use of she/her pronouns in latest TV appearance - The Independent - December 21st, 2020
- Special report: Twenty extraordinary women blazing trails in biopharma R&D Covid-19 and beyond - Endpoints News - December 11th, 2020
- Hyperemesis Gravidarum researcher Dr. Marlena Fejzo is on a mission to understand women's health - Motherly Inc. - December 11th, 2020
- Loeffler claims she is the candidate who will create jobs - Yahoo News - December 11th, 2020
- Nobel Prize history from the year you were born - Albany Democrat Herald - December 4th, 2020
- Nobel Prize history from the year you were born - Kenosha News - December 3rd, 2020
- Genomics, gene-editing and the Blue Revolution - Pursuit - December 3rd, 2020
- How breeding can improve lice-eating efficacy of lumpfish in salmon farms - The Fish Site - December 1st, 2020
- 5G and 'Biohackers': Technology rules! (Is that a good thing?) - People's World - December 1st, 2020
- Aspira Women's Health, Inc. Announces a Collaborative Agreement with Baylor Genetics for the Co-Development of an Ovarian Cancer Early-Detection Test... - November 23rd, 2020
- New genetic tools will deliver improved farmed fish, oysters, and shrimp. Here's what to expect - Science Magazine - November 23rd, 2020
- Fitter and Faster: U of O alum Rachel McBride is breaking through barriers and championships - The Fulcrum - November 23rd, 2020
- Fearn farming family to run first online breeding cattle sale at turn of year - Northern Times - November 23rd, 2020
- A key to the mystery of fast-evolving genes was found in junk DNA - Science News - November 23rd, 2020
- The role of a data-analytics director in genomic discovery - Siliconrepublic.com - November 23rd, 2020
- Triangle headliners: Previewing 50 webinars & events coming up rest of this month - WRAL Tech Wire - November 23rd, 2020
- Face Shaving for Women: Pros and Cons, Best Practice Tips - Healthline - November 4th, 2020
- NASCAR's only female track president ready to host championship - The Athletic - November 4th, 2020
- Four Black WomenAll CEOsHave Created A 'Call To Action' To Close The Health Gap For Black Americans - Forbes - November 4th, 2020
- Breeding program 'being worked on' to boost caribou population in Jasper National Park Jasper's source for news, sports, arts, culture, and more -... - November 4th, 2020
- Angelika Amon, cell biologist who pioneered research on chromosome imbalance, dies at 53 - MIT News - November 3rd, 2020
- Berkeley Talks transcript: How Mary Shelley's 'Frankenstein' took on a life of its own - UC Berkeley - November 3rd, 2020
- UKZN boast its first black female graduate with a PhD in leisure and recreation - IOL - October 31st, 2020
- This Young Farmer Has Advice for Anyone Who Wants to Grow Food - Global Citizen - October 31st, 2020
- Help your health by taking breaks from stress - The Robesonian - October 31st, 2020
- Poor intimate hygiene linked to being one of the biggest causes of cervical cancer - Microbioz India - October 23rd, 2020
- Breastfeeding Won't Cause Your Breasts to Sag and Nine other Surprising Facts about Breasts - PR Web - October 23rd, 2020
- Female moles are intersex they have testicle-like tissue that helps them grow big and tough - CBC.ca - October 20th, 2020
- How to Stop Growing Taller and Why You Shouldn't - Healthline - October 20th, 2020
- Republican voters are taking a radical internet conspiracy theory into the mainstream - Economic Times - October 20th, 2020
- BreakPoint: Inventors of CRISPR win Nobel Prize, but should we 'rewrite the code of life'? - Chattanooga Times Free Press - October 18th, 2020
- Genetics of Height and Risk of Atrial Fibrillation: A Mendelian Randomization Study - DocWire News - October 18th, 2020
- Women Rise Above with Launch of Pink Haze - PRNewswire - October 18th, 2020
- Female Moles Have 'Ovotestes' that Produce Testosterone That Make Them Excellent Diggers - News18 - October 18th, 2020