Patients with stomach and intestinal disorders may be at greater risk of developing Alzheimer’s disease

Article 1: Hematopoietic loss of Y chromosome leads to cardiac fibrosis and heart failure mortality

As men age, they lose their Y chromosome, primarily in blood cells. This is called mosaic loss of Y chromosome (mLOY). Previous studies have shown that men with mLOY live shorter lives than men without mLOY, and they are thought to be more prone to Alzheimer’s disease and solid tumours such as prostate and colon cancer. mLOY is very common and detected in at least 20% of 60-year-olds and 40% of 70-year-old men. The current study indicates that men with mLOY in the white blood cells also have an increased risk of developing and dying from cardiovascular diseases. Read the full article .

In summary: Men who lose a proportion of their Y chromosome with age have an increased risk for heart disease and heart failure

Article 2: A large-scale genome-wide cross-trait analysis reveals shared genetic architecture between Alzheimer’s disease and gastrointestinal tract disorders

A recent study indicates a genetic link between Alzheimer’s disease (AD) and multiple gut disorders. The researchers found that people with AD and gut disorders have specific genes in common. The findings add to the evidence that the gut-brain axis may play a role in the development of neurodegenerative disorders. The genes and biological pathways identified are potential new targets for the development of new treatments for both conditions. For example, the data suggest that cholesterol lowering medications (statins) could be therapeutically beneficial in treating both AD and gut disorders. Read the full article .

In summary: Patients with stomach and intestinal disorders may be at greater risk of developing Alzheimer’s disease

Article 3: Mutant KRAS regulates transposable element RNA and innate immunity via KRAB zinc-finger genes

The KRAS gene is among the most frequently mutated genes across all cancers, including pancreatic, lung, and colorectal cancers. KRAS is thought to be an initial “driver” mutation that leads to cancer formation. In this study, KRAS mutations in lung cancer were analysed to determine their effects on RNA “dark matter” (also known as non-coding RNA) which is generated from 75% of the 3 billion base pairs in the human genome. The findings indicate that a key mutation that occurs early on in cancer, alters RNA “dark matter” and causes the release of previously unknown RNA biomarkers for early cancer detection. Read the full article .

In summary: New biomarkers (made up of RNA) have been discovered which can be used to detect cancer early

Article 4: Phase 1–2 trial of AAVS3 gene therapy in patients with hemophilia B

Haemophilia B is a rare and inherited genetic bleeding disorder caused by low levels of the factor IX (FIX) protein, required for forming blood clots that help prevent or stop bleeding. The gene responsible for making FIX protein is located on the X chromosome, so the severe form of haemophilia B is much more common in men. Currently, patients with haemophilia B need to inject themselves regularly with recombinant FIX, as regular replacement therapy to prevent excessive bleeding. This recent study found that one-time treatment with FLT180a* led to sustained production of FIX protein from the liver in nine of ten patients, across four different dose levels, reducing the bleeding risk and removing the need for regular FIX replacement therapy. Read the full article .

*FLT180a gene therapy works by delivering a functional copy of the factor IX gene directly to the tissues to compensate for one that is not working properly. Newly synthesized proteins are released into the blood.

In summary: Novel gene therapy could reduce bleeding risk for haemophilia B patients

Updates on additional COVID-19 booster doses

Recommendations from ECDC and EMA:

In summary: Second booster doses of mRNA COVID-19 vaccines to be considered for people between 60 and 79 years old and people with medical conditions putting them at high risk of severe disease

Recommendations from WHO:

In summary: Limited available data suggest that for highest risk groups there is a benefit that supports the administration of an additional booster dose

New in Genetics issue August 2022. Every month, Medicover Genetics curates the most important peer-reviewed scientific publications related to genetics.