Brief Analysis of Genetic Processes - Essay Example

Brief introduction to genetic material: Double stranded structure, the two strands running opposite to each other, having sugar molecules, phosphate and base groups (Adenine, Thymine, Guanine, and Cytosine). The arrangement of these base groups in different sequences which gives an individual specific genetic traits, as these base groups arrange themselves in different combination groups along the two DNA strand. These proteins encoded by genes perform different functions in the body. The arrangement of these bases in the genetic machinery is done in a sequence. Any abnormality in genetic machinery along the DNA helix results in abnormal genes formation and thus abnormal proteins and abnormal characteristics, resulting in genetic diseases. Inheritance: A natural process in which certain characteristics are transmitted from parents to off springs. The transmission of these characteristics from parents to off springs depends on the genetic makeup of parents (Cummings,8). Any abnormality in the genetic machinery will lead to abnormal products and thus abnormal characteristics. Regarding the mode, in case of abnormality in the genetic machinery in the parents, the transmission of defeat is subject to abnormality in parents. Autosomal includes autosomal dominant and autosomal recessive. The second is dominant and recessive. Further these patterns of inheritance depends on the defective genetic material transmission through sex chromosomes. Autosomal chromosomes (each individual has 23 pair chromosomes, 22 pairs being autosomal and 1 pair of sex chromosome (Russo et.al,579). Autosomal dominant conditions Kidney Metabolic Structural Metabolic Gastro Hematology CNS Adult polycystic kidney disease Acute intermittent porphyria Achondroplasia Hyperlipidemia type 2 Familial adenomatous polyposis Hereditary spherocytosis Tuberous sclerosis Ehler danlos syndrome Hypokalemic periodic paralysis Hereditary non polyposis colorectal carcinoma Ant thrombin 3 deficiency Neuro- -Fibra- -matosis Osteogenesis imperfect Malignant hyperthermia Peutz jeghers syndrome Von willibrand disease Huntingtons disease Marfans syndrome Hereditary heamoreghic telengectasia retinoblastoma Noonans syndrome Myotonic dystrophy Autosomal recessive disorders Sickle cell Thalassemia G6PD DEFICIENCY Albinism Congenital adrenal hyperplasia familial Mediterranean fever Homocystinuria Friedreichs ataxia Cystic fibrosis Cystinuria Wilson disease Gilbert syndrome Glycogen storage diseases Phenyl ketonuria Haemochromatosis Lipid storage disorder (Biller and Ferro, 9) X linked recessive disorders Adrenoleukodystrophy Hemophilia B Becker’s muscular dystrophy Duchenne muscular dystrophy Fabrys disease Hemophilia A Autosomal dominant disorders in young age people Marfans syndrome Hereditary spherocytosis Ehler danlos syndrome Von willibrand disease Acute intermittent porphyria Achondroplasia Autosomal dominant disorders in middle age/ elderly population Adult polycystic kidney disease Peutz jeghurz syndrome Huntingtons disease Anti thrombin 3 deficiency Hyperlipdemia type 2 Tuberous sclerosis Hereditary non polyposis coli Neurofibramatosis Note: anti thrombin 3 deficiency can even present in young (Y.Wen and Schiff, 68) Autosomal recessive conditions in young age people Sickle cell disease Glycogen storage disease Thalassemia Cystic fibrosis Homocystinuria Congenital adrenal hyperplasia Friedrichs ataxia G6PD deficiency Wilson disease Note.wilson disease can even present in late age Trineucleotide repeat disorders: Most of these genetic disorders present in young and middle age individuals. Prognosis of individuals with genetic disease on the basis of age factor. The question that genetic diseases in young population are more lethal than being in elderly population, the aggressiveness of a genetic disease depends on the following factors,which will be even explained with examples. First is mode of inheritance. Second is age. Third is severity and nature of individual genetic disease. Fourth is Phenomenon of anticipation. Fifth is complications developed as a result of genetic diseases. Thalassemia (autosomal recessive, in young population): Thalassemia, a blood disorder, in which there is a genetic defect and leads to abnormal gene formation resulting in an abnormal beta-Globin protein, a component of the oxygen carrying molecule hemoglobin. Depending on the number of genetic mutations, the corresponding number of globin chains are being abnormal, resulting in abnormal hemoglobin formation, ranging from a single globin gene abnormality to both genes abnormality, leading to severity ranging from mild blood disorder to severe blood disorder requiring blood transfusions (McClatchey, 164). As the disease presents early in life so the more the severe the disease the more poor prognosis at early life will be, in contrast to thalassemia presenting at early life with less severe genetic abnormality and the resultant mild form of disease resulting in good prognosis. Friedriechs ataxia (autosomal recessive, trinucleotide repeat disorder) genetic disease of young population: This neurological disease with Dorsal Column Medial Leminiscus, Peripheral neuropathy, cerebellar and upper motor neuron lesion presents in early age, and leads to morbidity at early age, the reason for this early age presentation is the process of anticipation, the process of expansion of trinucleotide repeat in successive generations leading to presentation and morbidity at age younger than his father. Adult poly cystic kidney disease (Autosomal dominant, mortality in elderly at around age of 50 to 60). Adult poly cystic kidney disease, a genetic disorder, depending on the chromosome being involved resulting in autosomal dominant and recessive respectively resulting in cysts formation in kidneys. It leads to a progressive renal failure and causing chronic renal failure. Patients develop chronic renal failure at the age of 50 to 60 and thus leading to mortality. Apart from the cystic disease causing renal failure, APKD can also cause berry aneurysm in 25% of the cases and thus leading to intra cerebral hemorrhage which can lead to death (Li et.al, 274). Cystic fibrosis (autosomal recessive in young population): Cystic fibrosis is sodium and chloride channel abnormality as a result of CFTR gene mutation leading to thick secretions, leading to repeated infections and the resulting bronchiectasis.Morbidty and mortality is at middle age depending upon the severity of disease. Duchenne muscular dystrophy/beckers muscular dystrophy(x linked recessive disorder, in young population, severity depending on severity of gene mutation): Duchenne, the severe one, affecting children due to mutation in a dystrophin gene resulting in abnormal dystrophin protein which results in muscle weaknesses. Becker’s dystrophy with the same gene mutation but of milder form leads to proximal muscle weakness and disability but onset of the disease is at the later age of life. Some individuals have almost normal life span. Marfans syndrome in young population is a genetic disorder of connective tissue component fibrillin due to mutation in the fibrillin gene. Individuals are prone to aortic dissection and can lead to death. if we look at Mar fan’s syndrome ,the mortality is due to its complication rather than the disease itself. Summary The above mentioned genetic diseases are a few examples from the tables, to elaborate the factors in certain genetic diseases playing a role in the morbidity and mortality, and explaining that every genetic disorder by itself has certain characteristics which decides the fate of the genetic disorder either to be a severe one leading to early mortality or morbidity or leading to an indolent course and thus late mortality and morbidity. References: Biller, José and José M. Ferro. Neurologic Aspects of Systemic Disease Part I E-BOOK: Handbook of Clinical Neurology. Newnes, 2014. Cummings, Michael. Human Heredity: Principles and Issues. Cengage Learning, 2010. Li, Wei, David Frierman and Bob Flaws. Diseases of the Kidney & Bladder: Diagnosis & Treatment with Chinese Medicine. Blue Poppy Enterprises, Inc, 2006. McClatchey, Kenneth D. Clinical Laboratory Medicine. Lippincott Williams & Wilkins, 2002. Russo, Andrew F, Jennifer Regan and Cinnamon Van Putte. Fund Of Human Anatomy & Physiology (Sie). Tata McGraw-Hill Education, 2011. Y.Wen, Patrick. and David Schiff. Neurologic Complications of Cancer Therapy. Demos Medical Publishing, 2011. Read More