Progeria

Progeria

  • Submitted By: K-Stubbs
  • Date Submitted: 04/13/2014 11:50 AM
  • Category: Science
  • Words: 5111
  • Page: 21


Contents





Abstract

Progeria, also known as the Hutchinson-Gilford syndrome, it is an extremely rare condition not even infecting much individuals. It was first reported by Jonathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. Hutchinson Gilford progeria syndrome (HGPS) is a disorder characterized by premature aging. It is caused by a defective LMNA gene known as a Progerin. Which is said to most likely be from a sporadic autosomal dominant mutation. The main clinical and radiological features include alopecia, thin skin hypoplasia of nails, loss of subcutaneous fat, and osteolysis. Intelligence is not impaired. Symptoms mostly occurring in the skin, bone, and cardiovascular tissues, while other organs appear to be unaffected. Currently there is no cure for this genetic disorder, doctors are only able to monitor health conditions and deal with the symptoms as they appear. So those with Progeria usually die from cardiovascular abnormalities and this usually occurs between the ages of 10 and 15 years.


Introduction

Genetics can be define as the study of inheritance or the science of heredity and variation. In a broader sense genetics concerns the processes of which trait inheritance goes from parents to progeny (offspring), molecular structure and function of genes, gene behavior in the cell or organism (e.g. dominance and epigenetic – this is the study of all processes caused by outer mechanisms that create changes in gene expression like mutation, gene slicing etc.), gene distribution and variation in the general population. Genes are universal to all living things, this includes the simple bacteria to organisms of the animal kingdom. The history of genetics as a modern science dates back to the mid-19th century with monk Gregor Johan Mendel on his work with the garden pea. Through his work Mendel came up with the laws of independent assortment and segregation and ultimately how organisms inherit traits by a “unit...

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