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      • Topic 2 - Relationship with our fathers
      • Topic 3 - Relationship with our mothers
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    • Allah my sole companion
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    • Friday Inspirations: Life Lessons Through Anatomy >
      • Take care of your heart
      • Do not carry the worries of life but the tools to make a positive change in it.
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      • Take the good from every situation
      • Digest and Absorb knowledge
      • Filter your contacts
      • Sweet and Sour
      • The tongue that can bring Peace and War
      • My corrected vision
      • Are you hearing or are you listening?
    • What is cancer and its types?
    • Healthcare Publications >
      • The Eye Issue 13
      • The food journey
      • Diagnosis and Treatment of cancer
    • Lifestyle >
      • Maintaining Healthy Lifestyle
      • Nutrition and Exercise >
        • Drinking Water
        • Benefits of Avocado
        • Benefits of Honey
        • Benefits of Blackseed oil
        • Cancer >
          • Biology of Cancer >
            • Introduction to DNA
            • What are viruses?
            • Why viruses are replicated?
            • Herpes Virus
            • Viruses and Cancer
            • Vaccines
            • Penicllium and Pseudomona bacteria
            • Adaptive Immune Response
            • Innate Immune Response
          • Types of Cancer >
            • Breast Cancer
            • Prostate Cancer
            • Malignant Melanoma and Obesity
            • Neurological Tumours
          • Cancer Treatment >
            • Chemotherapy: A Introduction
        • Swimming: A sunnah issue 15
        • Yoga
        • A Good Health Makes You Rich
    • Respiratory >
      • Introduction to lungs
      • Asthma
    • The Bone and Muscles >
      • Cystic Fibrosis
      • Duchenne Muscular Dystrophy
      • Lower Back Pain
      • Neck Pain
      • Arthiritis
      • Comfort during pregnancy
    • The Heart and the Blood >
      • Heart Physiology
      • Coronary Heart Disease
      • Thrombocytopenia and its diagnosis
      • Haemolytic anaemia and its diagnosis
    • Diabetes Inspidus
    • Medicine and Islam >
      • The link between Medicine and Science with Glorious Quran >
        • Introduction
        • Embryology and the human development
        • The Power of Human Senses
        • The Brain - The Human Body's Main Processor
        • The wonders of the heart anatomy and physiology
        • The Conceptual Art of The Bone
        • The extraordinary tubular network of the small intestine and the conclusion of the research project
      • Medicine Through Islamic History
      • Healthy Wealthy tips for Ramadan
      • Prophetic Medicine
      • Ruqyah
      • Healing through Ruqya
      • Hajj and Eclipse >
        • Hajj and Health
        • Solar Eclipse
      • Spiritual Detox, Supplications and Recommended Reading
  • Spiritual Development
    • Standing up with purpose
    • Youtube Reminders
    • Quran - My Source of Solace
    • Tafseer Surah Al Fatihah
    • Temporary magnetic attraction
    • The Art of Dua
    • Remaining Faithful
    • Controlling Anger
    • My relationship with the Quran
    • Tawakkul
    • Everlasting love with Allah
    • My father who inspired me to do dawah,
  • Community Matters
    • Where is the Ummah?
    • Doses of Inspiration >
      • The importance of Amanah
      • Preparation for the Inevitable Hereafter
      • Are muslim women oppressed?
      • My thoughts on evolution
    • Giving charity and the fitnah of wealth
    • Depression in society
    • Reflection on Racism
    • A Muslimah's Identity
    • Teaching Children to Pray
    • Loving people for the sake of Allah
    • Connecting with sisters
    • Poem on sisterly love
  • Magnetic Love With Ramadan
    • Self-analysis and preparation of Ramadan
    • Poem on Ramadan
    • Mannerism Whilst Fasting
    • Reconnecting with Ramadan 2015
    • Season 1
    • Season 2
    • Season 3
    • Season 4 >
      • Part 1 Reminiscing how the Sahaba spent Ramadan
      • Part 2 Polishing Our Character
      • Part 3: Steadfastness after Ramadan
    • Season 5 >
      • The faith of Ibrahim
      • Pearls of Ramadan
      • Inspiring individuals from world history
      • The perserverance of Asiyah
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      • Pre-Ramadan Reminders
      • Daily Ramadan boost
      • Ramadan events
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      • Cementing our Purpose during COVID-19
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    • Special addition to Season 9 Post- Fajr Reflections
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    • Monday Motivation Season 1
    • General Daily Motivation Season 2
    • Opportunities to fast
    • Friday reminders
    • Lessons from Surah Kahf
    • *NEW* Sunday moments
  • Spoken Word Poetry
    • Themes >
      • Black History Month: Actions Not Words
      • Developing Yourself
      • Relationship with Allah
      • Character
      • Preparation for the Akhirah
      • Parents
      • Friendship
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      • Reflections
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    • SUMMER FUN The Holy Land for Kids Colouring book!
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    • Customised names - Arabic Calligraphy
    • Special Occasions
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    • Crafts: Home decor ideas
    • Crafts: Jewellery design
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    • The Revival of Our Sacred Landmarks
    • History Podcasts
    • The magnitude of Islamic History
    • An insight to the Islamic Art of the Abbasid dynasty
    • April Fools Day
    • The Eminent Companions of Prophet salla allahu allayhi wa salam Season 1 >
      • Lessons of the Father of Kittens Abu Hurayrah (RA)
      • The pure faith of Ramla bint Abi Sufyan (RA)
      • A man of honour and dignity - Zubair Ibn Al Awam (RA)
      • Zaid ibn Harith - the beloved one (RA)
      • Julaybib (RA)
      • The Custodian of the Ummah - Abu Ubaydah ibn Jarrah
      • The man of paradise Bilal (RA)
      • Dhun Noorayn Uthman ibn Affan (RA)
      • Wisdom of Rumaysah bint Milhan (R
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      • Consistency of Bara ibn Azib RA
      • The courage of Fatima bint Asad
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  Welcome

DMD - Duchenne Muscular Dystrophy

4/16/2015

3 Comments

 
Picture
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The molecular basis of DMD was first determined in the 1980s. DMD symptoms usually begin to show between the ages of 3-5 and affect 1 in 3,500 patients. At the age of 20 patients are usually unable to walk so bound to a wheelchair. In 1986 Gowers observed that familial cases were more common than sporadic cases. P.E Becker discovered that there is a milder form of DMD where symptoms usually show after the age of 12 and affects 3 per 100,000 new born. He also discovered that X-linked disorders have slower progression. It does not affect reading frame but has DMD gene deletions. The protein involved in DMD is dystrophin. The dystrophin gene is the largest gene that encompasses 206 million base pairs and contains 79 exons. It is the main proteins that link the cytoskeleton to the extracellular matrix. DMD has shown variation in muscle size and penetration of connective tissue. Patients suffering from DMD have a deletion of 45 exons and in BMD 35 exons. Deletions have been found on Xp21.

The cloning of the dystrophin gene in the 1980s led to the discovery of physiological consequences of DMD. There are three major proteins that were first discovered known as dystrophin associated protein complex (DAPC). Dystrophin is a rod shaped cytoplasmic proteins that links actin fibres in cortex of muscle cells to extracellular basal lamina (connective tissue) by forming a bridge between actin and transmembrane protein complex called (dystrophin-associated sarcoglycan complex) (DASC) located in sarcosplasma. Without dystrophin an improper complex is formed.

DMD gene has 79 exons with promoter regions scatters across 2.4 Mb.

The first of the proteins is known as dystroglycan. The dystroglycan complex is a membrane-spanning complex composed of two subunits, alpha- and beta-dystroglycan. Alpha-dystroglycan is a cell surface peripheral membrane protein which binds to the extracellular matrix (ECM), whereas beta-dystroglycan is an integral membrane protein which anchors alpha-dystroglycan to the cell membrane. The dystroglycan complex provides a tight link between the ECM and cell membrane. No patients have shown the mutation is the studies of Dalkillic et al (2003).

The second proteins are Dystrobrevins and Syntrophins. These have been found to bind to dystrophin; these include multiple iso-forms of alpha and beta dystrobrevin and three syntrophin iso-forms. Alpha dystrobrevin is expressed in the skeletal muscle, and localized in the sarcelloma, and interacts with dystrophin. No mutations have been found but mice models with this mutation shown mild dystrophy.

Three iso-forms of syntrophin have been expressed in the skeletal muscle and shown to interact with dystrophin and dystrobrevin, and bring (nNOS) nitric neurol oxide synthesis. nNOS cause vasodilation near the muscle tissue in order for blood flow to occur for contraction. Less syntrophin would mean less nNOS. No patients have shown to have this except studies of mice.

Finally the last protein is the sarcoglycan-sarcospan complex. These forms of sarcoglycan interact with each other strongly that give rise to MD. DMD patients have shown to decrease in this protein and lost at the membrane.

Other types of proteins that are involved are caveolac, and there is an abnormal size and number.  This is found in all muscle types and interacts with C-terminal.

DMD is an X-linked recessive disorder as the mutated gene is found on the X chromosome.  The X chromosome is important for the development & growth. Females can be carriers of this disease if one X chromosome is affected as the other X chromosome would compensate. As for males they can either be normal with without the affected gene or affected. A female carrier can pass her affected X chromosome to son/daughter, therefore the son has a 50% of being infected and the daughter has 50% of being a carrier.

There are strategies used to identify and isolate genes involved in this monogenic disorder.

1)      Cytogenetic rearrangement results in DMD having location sub-chromosomal location to Xp21. Xp21 fusion with 285 ribosomal RNA nucleus on chromosome 21, allowing marker XJ1.1 à closely linked to be isolated.

2)      Use of DNA from a boy called ‘BB’ who suffered from 3 x-linked disorders: DMD, chronic granulomatous disease, retinitis pigmentosa. Genes responsible for these disorders are closely linked. Appeared that BB’s X chromosome cytogentically carried a visible deletion that affected part of all 3 genes.  DNA by this deletion isolated from XXXXY cell line using substractive hybridization techniques. One of these clones, pERT87 closely linked to DMD mutation sites. pERT87 and XJ1.1 clones used to map locus constructing long-range restriction map. pERT used to probe cDNA libraries resulting in isolation of cDNA clones together spanned 14-kb mRNA of locus.
3 Comments
Zachary link
12/23/2020 06:08:15 pm

Great post, thanks for writing

Reply
Hafsa Abbas
12/24/2020 01:33:40 am

Thank you

Reply
Window Coverings Arkansas link
2/16/2023 10:20:00 pm

Thank you for writing thhis

Reply



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