Genetically Inherited Diseases

2257 WordsFeb 2, 20189 Pages
Introduction: Chromosomes are long structures that are made up of DNA and proteins called histones. They are found in the Chromatin material in the nucleus and mitochondira. During the process “Crossing over” where there is the mutual exchange of genes in the pieces of chromosomes that causes variation in offspring, however this is where mutations commonly occur. If a parent has either a faulty gene or a missing gene, the child is usually at high risk of being diagnosed with the disorder or may be a carrier. Definition of a genetically inherited disease: “A genetic disease or disorder is the result of changes, or mutations, in an individual’s DNA. A mutation is a change in the DNA sequence that make up a gene” When a gene is mutated or is not present, its protein product can no longer carry out its normal function, and thus disorder or genetically inherited disease can occur. ADRENOLEUKODYSTROPHY (ADL) Description: Adrenoleukodystrophy (also known as X-linked adrenoleukodystrophy, ALD, X-ALD, adrenomyeloneuropathy, Siemerling-Creutzfeldt disease, or Bronze Schilder disease) is a progressive type of a genetically inherited disease that can cause damage to the myelin sheath, spinal cord and white matter in the central nervous system. When affected with ADL your body cannot break down very long-chain fatty acids (VLCFA), causing high levels of saturated VLCFA’s to build up in the brain, nervous system, adrenal glands and Leydig cells in the testes. The childhood
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