Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by early onset contractures of the elbows, achilles tendons and post-cervical muscles with progressive muscle wasting and weakness It is also associated with heart complications like cardiomyopathy and arrhythmia which in both cases can lead to death. Cardiomyopathy is a heart disease which affects the muscles of the heart. In cardiomyopathy is muscles get rigid, enlarged or thick
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known
Progeria Syndrome? This fatal condition is caused by a mutation in a gene called LMNA( Lamin-A). This gene produces a protein (Lamin-A protein) which is a foundational scaffolding that keeps the nucleus of a cell together. It is said by scientific researchers that the defective Lamin-A protein makes the nucleus unstable. This cellular instability consequently leads to the process of premature aging. (foundation, 2014) LMNA codes for Lamin A and C, the A type Lamins are the important structural components
An Overview of Hutchinson-Gilford Progeria Syndrome The human genome is a remarkable system composed of over 3 billion DNA base pairs that encode for the characteristics that makes people distinctly human and unique themselves. Without the genome’s nearly flawless ability to self-replicate the human species would cease to exist. As incredible as this replication methodology is, it is not without its faults. Genetic mutations, though rare and typically harmless, can strike at any time and in various
Progeria is a genetic mutation. This disease stems from "a single-nucleotide substitution that leads to aberrant splicing of the LMNA, the gene that encodes for the A-type nuclear lamins."(Kudlow, Kennedy, and Monnat 398) This single-letter misspelling occurs on chromosome 1 of the gene, which codes for lamin A. A point mutation from cytosine to thymine ensues near the end of the LMNA gene, a discovery by the Collins Laboratory. Gly608Gly,the most common mutation, results in "one hundred and fifty nucleotides
heart attack or a stroke. This condition is rare and is reported to occur in 1 in 4 million newborns worldwide. This condition is diagnosed by genetic testing along with other physical examinations. This condition is caused by a mutation in the LMNA gene. The LMNA provides instructions for making proteins called lamin. This condition results in the production of an abnormal version of the lamin A protein. Because of this mutated protein, the nuclear envelope is unstable and the nucleus becomes progressively
and effects of progeria are delayed or absent formation of teeth, observable veins, baldness, aged-looking and dried skin, and stiffness of joints. Progeria is caused at random by a mutation which affects the nuclear membrane of the protein lamin A. LMNA is a gene that provides specific instructions in developing certain proteins. Two major proteins, found throughout most of the body’s cells, are encoded by this gene. They are prelamin A and prelamin C. The prelamin A protein has a farneysal group
yday because you they never know when they might lose them. Progeria is not usually passed down in family. Children with Progeria often suffer from symptoms typically seen in elderly people (Davis1). People inherit the disease only one copy of the LMNA gene is enough to cause the disease because it is an autosomal dominant gene. The Progeria Research Foundation was created in 1999. Progeria does have parallels with normal ageing; at least in one key aspect how out blood vessels deteriorate. Researchers
are commonly displayed. Progeria is caused by abnormal genes, resulting in rapid aging of individuals who suffer chronic and progressive symptoms, ultimately affecting the quality of life. This extremely rare disease is caused by a mutation in the LMNA gene. Normally this gene produces a protein called Lamin A. This protein functions as a structural component in the nuclear envelope, and plays an important role in determining the shape of the nucleus. According to Sarkar, mutations that cause Hutchinson-Gilford
HGPS occur within the first year of a child’s life, Werner’s Syndrome might not appear until the teenage years and can continue until one reaches his or her maximum lifespan of 40 or 50 years of age. Progeria occurs because there is a mutation in LMNA, a gene that produces specific protein, lamin A protein, that plays an integral role in holding a cell’s nucleus together. This mutation leads to the production of progerin, a protein that causes the nucleus to be unstable. With this instability comes
Young children are usually concerned about getting the latest toy, plenty of play-time, and making friends. However, 1 in every 8 million children experience rapid aging and are typically concerned with issues such as hair loss, thin skin, stiff joints, and heart disease (Gordon). This rare fatal genetic disease is known as Progeria. In the last couple of decades, professionals have brought increased awareness and knowledge to Progeria and its symptoms, genetic cause, history, research, treatment
Muscular Dystrophy (MD) is a disease that weakens the musculoskeletal system and affects the ability to move. MD also affects groups of muscles. In the 1860’s it was described that boys were progressively growing weaker, losing the ability to move and died at an early age. A decade after the first description a French, neurologist named Guillaume Duchenne gave account for thirteen boys with the most common and severe forms of Muscular Dystrophy. MD is being caused by a mutation of a gene within the