Genetic Disorder Affecting Growth & Appetite - Essay Sample

Introduction

Prader-Willi syndrome is a disease caused by the complicated development of genes. It is related to the failure of some genes to function correctly in the body of the affected persons. When it occurs among infants, the victims have a condition known as hypotonia, which is characterized by having a weak muscle. Some symptoms affect the average growth of the child. Symptoms such as poor feeding habits that result from an abnormal appetite and the need to feed every time results in obesity. People suffering from Prader-Willi syndrome are likely to develop type 2 diabetes due to obesity. The condition is rare and is estimated to affect one in ten thousand to thirty-thousand people in the world. The most common symptoms of the victims of this disorder are the slight impairment of the brain. It is seen in their inability to learn quickly as compared to other average students. The symptoms are evident in their stubborn behavior, short temperateness. There have been reports of sleep abnormalities. Other additional symptoms of the disease include the distorted face feature and delayed puberty for both males and females.

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The mode of transmission of Prader-Willi syndrome is a complex process. It has been discovered to be a disorder that cannot be inherited since it involves a deletion process in chromosome 15 of the father. It can also occur due to uniparental disomy. Uniparental disomy that is associated with the mother is mostly a process. The process results in the creation of an abnormal phenotype when monoallelically chromosomes are imprinted. The affected people have never reported the history of the disorder in the family. However, some studies explain the possibilities of the disease to be passed from one generation to the other.

The Genetic Basis of the Disease

The real cause of the disease has been linked to imprinting, an epigenetic process that allows the genes to be conveyed with the exact copy of the parent. The forms of imprinting have been demonstrated in animals by scientists. The disorder happens during the genome imprinting due to the deletion of the copies of the paternal characteristics. The fatherly genes that get deleted include the SNRPN, and the NDN needs genes and other cluster copies. These essential genes are typically located at chromosome 15. The loss of the genes is usually due to mutation and on rare occasions of uniparental disomy, translocation of chromosomes, and other forms of alteration of the nucleotide sequence of a genome. When imprinting occurs, the inherited features that are maternal are less visible due to the overriding copies that are paternal.

The genetic mechanism that caused the disorder in an individual determines the risk of the sibling getting the disease too. There would be less risk of inheritance if the condition were caused by uniparental disomy. There would be higher risks if the cause of the illness were the translocation of the chromosome or mutation. There are instances of microdeletion in a section of snoRNA HBII-52, that has initially raised the alarm on the possible cause of the disease. A recent study on the models of a mouse and a human showed that microdeletion had no significant threat of the disease.

(II)Angelman syndrome

Angelman syndrome is a disorder closely related to Prader -Willi syndrome. It is a disorder that affects the nervous system due to dysfunction or absence of specific genes. It has a rare occurrence where it mostly affects children. The symptoms of the disease include delays in the development of the child, impairment of the speech, and ataxia, a condition where the patient cannot move properly due to the inability to control balance. The patients have distorted facial appearances characterized by small heads and a typically smiley face.

Genetic Basis

Angelman syndrome is a result of the failure of the UBE3A gene located on chromosome 15. People usually inherit a single copy of the gene from both parents during the process of the genomic imprint. The disorder occurs when the text of the maternal partner is not active. It is the exact opposite of Prader-Willis syndrome, and its occurrence depends on the paternal and maternal factors overriding each other. The primary cause of the disorder is the deletion of chromosome 15 of the motherly nature with the gene. The resulting human being bears two copies from the paternal copies making it a uniparental disomy case. It rarely occurs due to chromosomes translocation and mutation. The cause is yet to be fully known.

Polycystic Kidney Disease and Kartagener Syndrome

Polycystic Kidney Disease

A polycystic kidney disorder is caused by renal tubules, becoming structurally abnormal. This results in multiple cysts developing and growing in tubules of the kidney. These cysts can start developing in the utero stage, infancy stage, childhood stage, or adulthood stage. Abnormal genes are the cause of the disorder. This gene produces specific abnormal proteins which contain adverse effect in the development of tubule. Symptoms of the disease include; abdominal pain, excessive urination, blood in the urine, headache, high blood pressure, back pain, and cyst formation.

Kartagener's Syndrome

Kartagener's syndrome is a genetic condition containing autosomal recessive inheritance, which comprises a triad of situs Inversus, bronchiectasis, and chronic sinusitis. It affects cilia movement causing recurrent infections of the chest, nose/throat/ear symptoms sinus infections, and infertility nephronophthisis is a kidney genetic disorder which is common in children. Medullary cystic kidney disease is its classification and also inherited in the form of autosomal recessive, which is rare. It is a joint genetic leading to kidney failure in childhood. Its signs and symptoms are; polyuria, which is high urine production. Polydipsia, which is excessive liquid intake, extra-renal symptoms which include; liver problems, tapetoretinal degeneration. It also exhibits cone-shaped epiphysis and ocular motor apraxia. It is characterized by cysts formation and fibrosis in the cortico-medullary junction.

Genetic Basis

Autosomal dominant is one of the most common hereditary diseases of the kidneys with a massive case of victims. It is approximated that one in every thousand births have the disorder of the cysts in the kidney. It is mainly called adult PKD; this is because patients .suffering from this type my not realize symptoms until they reach 30-50 years. There is a similar phenotypical presentation of genetic mutation in three kinds of kidney disorders. Chromosome 16 is the location of gene PKD1 and protein codes involved in the cell mutation and the transfer of minerals like calcium. The removal of calcium is typically done through the epithelial cell tissues.

Autosomal recessive is less familiar with the estimated one child in three thousand births. Here cysts can grow in both kidney and liver. It is mainly called infantile PKD, as signs can be revealed in the first few months of babies' life or before they are born, this result in a 30% new-borns death rate as the kidney is underdeveloped.

Kartagener's syndrome is rarely heredity disease caused due to different genes mutation. It is autosomal recessive. Hence, the mutated gene must be inherited from both parents. It involves situs inversus and primary ciliary dyskinesia as its main characteristics.

Primary Ciliary Dyskinesia

Hair-like structures aligned at the mucous membrane of nose, sinuses, and lungs are the ones being called cilia. They usually move in a wave-like motion and helps clear mucus out of airways. When someone is suffering from PCD cilia abnormally example, they can move in the wrong direction, very little, or they do not move. This action affects its ability to remove bacteria and mucus out of the respiratory tract hence leading to chronic infections in the upper and lower airways.

Nephronophthisis is classified into the age where ESRD begins; infantile, which is around age 1, juvenile this is around age13 and adolescent, which is around age 19. This disease has several genetic causes that divide the condition into different types. NPHP1 gene, the protein produced is suspected to affect the cell structure called cilia. Nephronophthisis genetic mutation is said to affect the structure and functioning of cilia. The condition is inherited through an autosomal recessive pattern where the mutation has occurred to both copies of a gene.

Summary

Polycystic kidney disease can be detected through a CT scan, ultrasound, and MRI at the abdomen. Heart murmurs elevated blood pressure, and liver can also be revealed through physical exams or tests. This disease has no approved treatment; however, dietary restrictions reduce its progression.

Kartagener's syndrome is diagnosed during birth; the baby experiences distress in respiratory and also needs oxygen therapy. Its cure is not yet known, but the doctor can give treatment plans to manage symptoms and reduce dangerous complications. The doctor can prescribe immunizations and prolonged or low-dose antibiotics which control sinus infections and chronic respiratory. Inhaled corticosteroids may also be recommended to ease bronchiectasis symptoms.

Charcot-Marie-Tooth Disease

Charcot-Marie-tooth disease is also referred to as hereditary motor and sensory neuropathy. This type of disease comprises inherited disorders that affect the peripheral nervous system. This involves arms and legs.it contains many candidate genes and several inheritance patterns, hence accounting for a wide range of phenotypes(Barreto.etal,2016). CMT is heterogeneous, as demonstrated by clinical studies and genetics over the years. CMT is highly associated with various disorders; hepatitis C, diabetes mellitus, monoclonal gammopathy, leprosy, renal disease, alcohol abuse, infections example, Lyme disease ad HIV. CMT has a powerful hereditary component making it a complex disease(Higuchi.etal,2016). CMT patients many contain axon transport, which is disrupted, abnormal protein folding, imperfect protein transport, and endoplasmic reticulum retention and deficiency of genes processing RNA. This disease leads to weaker and smaller muscles. The person suffering from the condition may experience muscle contraction and sensation loss. The symptoms are noticed in early adulthood and adolescence(Laura &Skorupinsa,2015). During mutation, nerves and also the protective coating surrounding the nerves are damaged hence causing weak messages to move between brain and extremities. Due to this, brain signals may not be received by some feet muscles to contract; therefore, high chances of falling. Then pain messages may not be received by the brain from legs, so in case of a blister, then it can be infected without body realization.

Signs and symptoms include; leg, feet and ankles weakness, muscle bulk loss in feet and legs, curled toes, high foot arches, footdrop, reduced running ability, gait, frequent tripping, and decreased sensation at the legs. Symptom varies from a different person to another - different types of CMT rise due to various mutations. Commonly known CMT variants are grouped as sensory neuropathies and hereditary motor as the original classification, which was proposed in the 1970s. Type 1 CMT interferes with the myelinating Schwann cells hence affecting the nerve condition velocity. Type 2 CMT leads to axon degeneration. Apart from those two CMT variants that are dominantly inherited, X-linked demyelinating, axonal CMT (Canarella.etal, 2016). It has a recessive type in which HMSN classification includes them. Other CMT variants are classified predominantly into distal hereditary motor neuropathies or hereditary sensory and autonomic neuropathies depending on the neural...