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    Home > Active Ingredient News > Study of Nervous System > Communications Biology: Study reveals the mechanism behind eye disease

    Communications Biology: Study reveals the mechanism behind eye disease

    • Last Update: 2021-03-23
    • Source: Internet
    • Author: User
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    :com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of 'eye disease puzzle'

    :Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus, Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0

    Keratoconus causes the cornea (the transparent outer layer at the front of the eye) to thin and bulge into a cone over time, resulting in blurred vision and sometimes even blindness.
    It usually appears in adulthood and youth, usually has lifelong consequences, and affects an average of 1 in 375 people, although this number is much higher in some populations.
    Because the disease is more common in people with sick relatives, scientists believe that there may be a genetic link.

    (Image source:style="text-align: justify;">In the early stages, glasses or contact lenses can be used to correct vision.
    The only treatment is "corneal cross-linking", which uses directed ultraviolet rays to strengthen the corneal tissue.
    In very advanced cases, corneal transplantation may be required.
    Professor Inglehearn said: "This multinational, multi-center study provides us with the first real insights into the cause of this potential blindness and opens the way for genetic testing of individuals at risk.
    "
    The team was led by Alison Hardcastle, Professor of Molecular Genetics at UCL Institute of Ophthalmology, and Dr.
    Pirro Hysi from King’s College London, and included researchers from the United Kingdom, the United States, the Czech Republic, Australia, the Netherlands, Austria and Singapore to conduct a relatively complete genetic screening.
    , Including 4,669 patients with keratoconus cancer and 116,547 people without this disease.
    The research team pointed out the significantly altered short DNA sequence in the genome of the keratoconus population, providing clues for its development.
    These findings indicate that the collagen network in the cornea of ​​patients with keratoconus is often defective, and the cell programming may be abnormal, which affects their development.
    Due to insufficient sample size, it was impossible to obtain these findings in previous studies.
    Now, future work will aim to understand the precise impact of these DNA variations on corneal biology and to find out the mechanism of keratoconus development.
    It is also important to identify any remaining genetic variants in patients with keratoconus not found in this study.
    This work brings science closer to early diagnosis and may even become a new therapeutic target for current and future keratoconus patients (Bioon.
    com)
    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0



    Because the disease is more common in people with sick relatives, scientists believe that there may be a genetic link.


    (Image source:style="text-align: justify;">In the early stages, glasses or contact lenses can be used to correct vision.
    The only treatment is "corneal cross-linking", which uses directed ultraviolet rays to strengthen the corneal tissue.
    In very advanced cases, corneal transplantation may be required.
    Professor Inglehearn said: "This multinational, multi-center study provides us with the first real insights into the cause of this potential blindness and opens the way for genetic testing of individuals at risk.
    "
    The team was led by Alison Hardcastle, Professor of Molecular Genetics at UCL Institute of Ophthalmology, and Dr.
    Pirro Hysi from King’s College London, and included researchers from the United Kingdom, the United States, the Czech Republic, Australia, the Netherlands, Austria and Singapore to conduct a relatively complete genetic screening.
    , Including 4,669 patients with keratoconus cancer and 116,547 people without this disease.
    The research team pointed out the significantly altered short DNA sequence in the genome of the keratoconus population, providing clues for its development.
    These findings indicate that the collagen network in the cornea of ​​patients with keratoconus is often defective, and the cell programming may be abnormal, which affects their development.
    Due to insufficient sample size, it was impossible to obtain these findings in previous studies.
    Now, future work will aim to understand the precise impact of these DNA variations on corneal biology and to find out the mechanism of keratoconus development.
    It is also important to identify any remaining genetic variants in patients with keratoconus not found in this study.
    This work brings science closer to early diagnosis and may even become a new therapeutic target for current and future keratoconus patients (Bioon.
    com)
    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0



    (Image source: style="text-align: justify;">In the early stages, glasses or contact lenses can be used to correct vision.
    The only treatment is "corneal cross-linking", which uses directed ultraviolet rays to strengthen the corneal tissue.
    In very advanced cases, corneal transplantation may be required.
    Professor Inglehearn said: "This multinational, multi-center study provides us with the first real insights into the cause of this potential blindness and opens the way for genetic testing of individuals at risk.
    "
    The team was led by Alison Hardcastle, Professor of Molecular Genetics at UCL Institute of Ophthalmology, and Dr.
    Pirro Hysi from King’s College London, and included researchers from the United Kingdom, the United States, the Czech Republic, Australia, the Netherlands, Austria and Singapore to conduct a relatively complete genetic screening.
    , Including 4,669 patients with keratoconus cancer and 116,547 people without this disease.
    The research team pointed out the significantly altered short DNA sequence in the genome of the keratoconus population, providing clues for its development.
    These findings indicate that the collagen network in the cornea of ​​patients with keratoconus is often defective, and the cell programming may be abnormal, which affects their development.
    Due to insufficient sample size, it was impossible to obtain these findings in previous studies.
    Now, future work will aim to understand the precise impact of these DNA variations on corneal biology and to find out the mechanism of keratoconus development.
    It is also important to identify any remaining genetic variants in patients with keratoconus not found in this study.
    This work brings science closer to early diagnosis and may even become a new therapeutic target for current and future keratoconus patients (Bioon.
    com)
    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0



    Professor Inglehearn said: "This multinational, multi-center study provides us with the first real insights into the cause of this potential blindness and opens the way for genetic testing of individuals at risk.
    "
    The team was led by Alison Hardcastle, Professor of Molecular Genetics at UCL Institute of Ophthalmology, and Dr.
    Pirro Hysi from King’s College London, and included researchers from the United Kingdom, the United States, the Czech Republic, Australia, the Netherlands, Austria and Singapore to conduct a relatively complete genetic screening.
    , Including 4,669 patients with keratoconus cancer and 116,547 people without this disease.
    The research team pointed out the significantly altered short DNA sequence in the genome of the keratoconus population, providing clues for its development.
    These findings indicate that the collagen network in the cornea of ​​patients with keratoconus is often defective, and the cell programming may be abnormal, which affects their development.
    Due to insufficient sample size, it was impossible to obtain these findings in previous studies.
    Now, future work will aim to understand the precise impact of these DNA variations on corneal biology and to find out the mechanism of keratoconus development.
    It is also important to identify any remaining genetic variants in patients with keratoconus not found in this study.
    This work brings science closer to early diagnosis and may even become a new therapeutic target for current and future keratoconus patients (Bioon.
    com)
    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0



    The team was led by Alison Hardcastle, Professor of Molecular Genetics at UCL Institute of Ophthalmology, and Dr.
    Pirro Hysi from King’s College London, and included researchers from the United Kingdom, the United States, the Czech Republic, Australia, the Netherlands, Austria and Singapore to conduct a relatively complete genetic screening.
    , Including 4,669 patients with keratoconus cancer and 116,547 people without this disease.
    The research team pointed out the significantly altered short DNA sequence in the genome of the keratoconus population, providing clues for its development.
    These findings indicate that the collagen network in the cornea of ​​patients with keratoconus is often defective, and the cell programming may be abnormal, which affects their development.
    Due to insufficient sample size, it was impossible to obtain these findings in previous studies.
    Now, future work will aim to understand the precise impact of these DNA variations on corneal biology and to find out the mechanism of keratoconus development.
    It is also important to identify any remaining genetic variants in patients with keratoconus not found in this study.
    This work brings science closer to early diagnosis and may even become a new therapeutic target for current and future keratoconus patients (Bioon.
    com)
    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0


    The research team pointed out the significantly altered short DNA sequence in the genome of the keratoconus population, providing clues for its development.
    These findings indicate that the collagen network in the cornea of ​​patients with keratoconus is often defective, and the cell programming may be abnormal, which affects their development.
    Due to insufficient sample size, it was impossible to obtain these findings in previous studies.
    Now, future work will aim to understand the precise impact of these DNA variations on corneal biology and to find out the mechanism of keratoconus development.
    It is also important to identify any remaining genetic variants in patients with keratoconus not found in this study.
    This work brings science closer to early diagnosis and may even become a new therapeutic target for current and future keratoconus patients (Bioon.
    com)
    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0


    These findings indicate that the collagen network in the cornea of ​​patients with keratoconus is often defective, and the cell programming may be abnormal, which affects their development.
    Due to insufficient sample size, it was impossible to obtain these findings in previous studies.
    Now, future work will aim to understand the precise impact of these DNA variations on corneal biology and to find out the mechanism of keratoconus development.
    It is also important to identify any remaining genetic variants in patients with keratoconus not found in this study.
    This work brings science closer to early diagnosis and may even become a new therapeutic target for current and future keratoconus patients (Bioon.
    com)
    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0

    This work brings science closer to early diagnosis and may even become a new therapeutic target for current and future keratoconus patients (Bioon.
    com)
    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0

    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'
    Information source: com/news/2021-03-genetic-uncovers-hidden-pieces-eye.
    html">Genetic study uncovers hidden pieces of'eye disease puzzle'

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0

    Original source: Alison J.
    Hardcastle et al, A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus , Communications Biology (2021).
    DOI: 10.
    1038/s42003-021-01784-0
    Original source: A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus Communications Biology

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