Loss of Y chromosome in men could have health issues including cancer

imhotep

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  • Mar 29, 2017
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    Men tend to lose the Y chromosome from their cells as they age. But because the Y bears few genes other than for male determination, it was thought this loss would not affect health.

    New techniques to detect Y chromosome genes show frequent loss of the Y in tissues of older men. The increase with age is clear: 40% of 60-year-old men show loss of Y, but 57% of 90-year-olds. Environmental factors such as smoking and exposure to carcinogens also play a role.

    Loss of Y occurs only in some cells, and their descendants never get it back. This creates a mosaic of cells with and without a Y in the body. Y-less cells grow faster than normal cells in culture, suggesting they may have an advantage in the body – and in tumours.

    The Y chromosome is particularly prone to mistakes during cell division – it can be left behind in a little bag of membrane that gets lost. So we would expect that tissues with rapidly dividing cells would suffer more from loss of Y.

    The human Y is an odd little chromosome, bearing only 51 protein-coding genes (not counting multiple copies), compared with the thousands on other chromosomes. It plays crucial roles in sex determination and sperm function, but was not thought to do much else.

    Despite its apparent uselessness to most cells in the body, evidence is accumulating that loss of Y is associated with severe health conditions, including cardiovascular and neurodegenerative diseases and cancer.

    Loss of Y frequency in kidney cells is associated with kidney disease.

    Several studies now show a relationship between loss of Y and cardiac disease. For instance, a very large German study found men over 60 with high frequencies of loss of Y had an increased risk of heart attacks.

    Loss of Y has also been linked to death from COVID, which might explain the sex difference in mortality. A tenfold higher frequency of loss of Y has been found in Alzheimer’s disease patients.

    Several studies have documented associations of loss of Y with various cancers in men. It is also associated with a poorer outcome for those who do have cancer.

    PS: The DNA of the human Y was only fully sequenced a couple of years ago – so in time we may track down how particular genes cause these negative health effects.
    (The full gap free Y DNA sequence was by T2T Consortium in mid 2023, which was the final human chromosome to be fully sequenced)
     

    imhotep

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    Y ක්රෝමසොම් එක නැති X එකක් විතරක් තියෙන අසම්පූර්ණ ස්ත්‍රී ලක්ෂණ තියන මිනිස්සුත් ඉන්නවා නේද?
    Very rare. eg De La Chapelle syndrome. The translocation of the SRY gene from the Y chromosome to the X chromosome is the cause.

    The SRY gene (Y-chromosome linked Sex determining Region Y) was found in 1990 by Prof Andrew Sinclair (Australian) who also identified a whole new family of related genes, called SOX, which have important roles in development.
    About 20 of SOX genes appear to act as master switch genes encoding transcription factors regulating the differentiation of a number of cell types.
     
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    Bad_horse

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    So in this theory if Y chromosomes have protective affect against cancers then females should be having more cancer incidence. But that's not the case or we can take Turner syndromic patients having increased incidence of cancer still it's not in significant levels.. If a cell is dividing rapidly it can loose Y chromosomes but rapid dividing cell types also have high risk of mutation regardless of Y chromosomes. I think this is correlation not causation
     

    imhotep

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    So in this theory if Y chromosomes have protective affect against cancers then females should be having more cancer incidence. But that's not the case or we can take Turner syndromic patients having increased incidence of cancer still it's not in significant levels.. If a cell is dividing rapidly it can loose Y chromosomes but rapid dividing cell types also have high risk of mutation regardless of Y chromosomes. I think this is correlation not causation
    These studies relate to men who lose the Y due to ageing. The loss of Y in normal-appearing tissue was highest in colon, rectum, esophagus, pancreas and lung cancer.
    A study by Uni of Arizona study, who created detailed maps of bladder tissue removed during cancer surgery. These maps let them see how Y chromosome loss increased from normal bladder tissue through early abnormal cells and into full-blown cancer.
    So it probably can be used as an early marker for cancer when biopsies return negative.
    Also studies by Cedars-Sinai Cancer center also points that the loss if Y hampers the body's ability to fight cancer helping the cancer cells to evade the immune system.
     
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    Bad_horse

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    Also studies by Cedars-Sinai Cancer center also points that the loss if Y hampers the body's ability to fight cancer helping the cancer cells to evade the immune system.
    But females who never had any Y chromosomes to begin with have lower cancer incidence than males
     

    imhotep

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    But females who never had any Y chromosomes to begin with have lower cancer incidence than males
    Yes...This conundrum hasn't really been properly explained. The usual explanation was that the male lifestyle factors like smoking, alcohol etc.

    However, later on, the theory was that because the females carry an extra copy of protective genes.
    The so called fully functional tumor-suppressor genes on an otherwise idle X chromosome – underlies the broader phenomenon of cancer’s partiality toward male cells. These genes are called “EXITS,” for Escape from X-Inactivation Tumor Suppressors.
    Male cells would need a harmful mutation in only one copy of an EXITS gene to turn cancerous while Female cells, by contrast, would need mutations in both copies.
    Also the TP53 gene which is the most mutated gene in human cancer, with more than half of all human cancers harbouring a genetic alteration that interferes with the function of p53 protein is more common in men than women.
    Only very recently that it was revealed how cancers carrying mutations in the p53 tumor-suppressor protein can hide those mutations from T cells.

    PS: It's interesting to note that the American Cancer Society has flagged that cancer rates are rising significantly among women under 50, with incidence rates 82% higher than their male counterparts in 2021.
    Many factors could be at play here including delayed childbirth, obesity, lifestyle, processed food etc

    Even viral infections can be more severe in males than in females. Female human NK cells have an extra copy of an X chromosome-linked gene called UTX. UTX acts as an epigenetic regulator to boost NK cell anti-viral function.
     
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