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Скачать или смотреть Dynamic Mutation | Huntington's Disease | Medical Genetics for Students

  • sqadia.com
  • 2025-09-04
  • 100
Dynamic Mutation | Huntington's Disease | Medical Genetics for Students
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Описание к видео Dynamic Mutation | Huntington's Disease | Medical Genetics for Students

Are you ready to unlock the secrets hidden deep within our DNA? Brace yourself for a thrilling adventure into the captivating world of human genetics, where we'll explore the mysterious inner workings of the human body.

At sqadia.com, we're excited to present our latest video that delves into the fascinating realm of Huntington’s disease, Myotonic dystrophy type 1 (MD1), Fragile X disease A (FRAX-A), Triplet repeats, Trinucleotide repeats, and Untranslated region. Don't be intimidated if these terms seem unfamiliar to you, because our genetics video will guide you through every step of the way.

Get ready to discover the secrets behind Anticipation, Trinucleotide expansion, Choreic movements, CAG trinucleotide repeat, CGG trinucleotide repeat, Dystrophia myotonica protein kinase, CTG trinucleotide repeat, and much more.
Our video is not just informative, but it is designed to be engaging and interactive to keep you hooked from start to finish.

So whether you're a seasoned geneticist or just beginning your journey, join us on a thrilling adventure into the complex and intricate world of human genetics. Who knows what exciting discoveries await you on this incredible journey? The only way to find out is to watch the video and let your curiosity guide you!

▬ 📌 Dynamic Mutation ▬▬▬▬▬▬▬▬▬▬
Dynamic mutation is a process where specific sequences of DNA, known as Trinucleotide repeats, can expand and contract in size over time. These trinucleotide repeats are normally stable, but in some individuals, they can become unstable and lead to an increase in the number of repeats. This expansion can occur during the transmission of the DNA from parent to offspring, resulting in the next generation inheriting more repeats than the previous generation.

This dynamic mutation process is unpredictable and can lead to a wide range of symptoms and disease severity, even among family members with the same genetic mutation. For example, in Huntington’s disease, the age of onset and severity of symptoms can vary greatly depending on the number of CAG repeats in the huntingtin gene. Conditions are of particular importance in this regard:
🟠 Huntington's Disease
🟠 Fragile X Syndrome
🟠 Myotonic Dystrophy Type-1

Huntington’s Disease
Huntington’s disease is a genetic disorder that affects the brain, leading to progressive motor, cognitive, and psychiatric symptoms. It is caused by a mutation in the huntingtin gene, located on chromosome 4, that results in an abnormal expansion of trinucleotide CAG repeats.

This expansion of CAG repeats leads to the production of a mutant huntingtin protein that accumulates in the brain, causing damage to nerve cells and leading to the gradual loss of function. The disease typically starts in mid-life, although the age of onset can vary greatly depending on the number of CAG repeats present in the gene.

Fragile X syndrome
Fragile X disease A, also known as Fragile X syndrome, is a genetic disorder that causes developmental and intellectual disabilities. It is caused by a mutation in the FMR1 gene, located on the X chromosome, that leads to a reduction or absence of the fragile X mental retardation protein.

symptoms of Fragile X syndrome can vary greatly but can include delayed speech and language development, social anxiety, hyperactivity, and repetitive behaviors.

Myotonic Dystrophy Type-1
Myotonic dystrophy type 1, or DM1, is a genetic disorder that affects the muscles and other organs in the body. It is caused by a mutation in the DMPK gene, located on chromosome 19, that leads to the abnormal expansion of CTG trinucleotide repeats.

▬ 📌 Features of Huntington’s Disease ▬▬▬▬▬▬▬▬▬▬
Huntington’s disease is a genetic disorder. Its features are:
🟢 Slowly Progressive Neuronal death
🟢 Involuntary Jerky Movements
🟢 Unsteady Gait
🟢 Epileptic Seizures
🟢 Psychiatric Disturbance
🟢 Difficulty Swallowing

▬ 📌 Features of Fragile X Disease-A ▬▬▬▬▬▬▬▬▬▬
Fragile X disease-A is a genetic disorder. Its features are:
⚫️ Intellectual and Developmental Disabilities
⚫️ Social Anxiety and Shyness
⚫️ Hyperactivity and Attention Deficit

▬ 📌 Features of Myotonic Dystrophy Type-1 ▬▬▬▬▬▬▬▬▬▬
Myotonic dystrophy type 1, or DM1, is a genetic disorder that affects the muscles and other organs in the body. Its features are:
🟣 Muscle Spasm
🟣 Cardiac Conduction Defects
🟣 Arrhythmia,
🟣 Testicular Atrophy
🟣 Cataract
🟣 Frontal Balding.
🟣 Increased Risk of Gallstones
🟣 Increased Risk of Diabetes Mellitus

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