Nutritional Deficiency in Muscular Dystrophy Patients - Research Paper Example

? Nutritional deficiencies in muscular dystrophy patients Nutritional deficiencies in muscular dystrophy patients Nutritional deficiencies in muscular dystrophy patients Muscular dystrophy (MD) referred to a “group of more than 30 genetic diseases that caused progressive weakness and degeneration of skeletal muscles used during voluntary movement” (NINDS, 2011). Johanson had defined muscular dystrophies as “genetic disorders which were caused by missing or incorrect genetic information in the body cells” (2008). The common muscular dystrophies were seen in childhood and adolescence. Progressive weakening and the degeneration of the skeletal muscles causing problems in walking were the main features of this severe illness. This illness was seen in 400-600 live male births in the US (CDC, 2005). Muscular dystrophies affected children and adults; they were severe in nature and genetic in cause (Emery, 2008). The striate, voluntary, multi-nucleated skeletal muscles were affected by the illness (Fischman, 2009). French neurologist Guillaume-Benjamin-Armand-Duchenne (1806-1975) first published papers describing this illness in 1861; it was thereafter called Duchenne’s dystrophy in the founder’s memory (Johanson, 2008). The ill and the family were greatly affected by psychological and physiological challenges. Societies and support groups were also involved and joined hands with the families to uplift their general well-being. The disturbed motility and the emotional effects restricted the life of the ill and their families. Exercise, physiotherapy and surgery had a variable role in their existence. Schooling and career issues affected them. Genes, being the causative factors for the different varieties of muscular dystrophies, had been identified. Diagnosis was possible by molecular genetics. Prevention was done through genetic counseling (Emery, 2008). Muscular dystrophy patients had limited mobility or orophyangeal weakness (Motlagh et al, 2005). These led to nutritional deficiencies. Dysmotility of the gastrointestinal tract could be associated in muscular dystrophy and this was another cause for nutritional deficiencies caused by inadequate digestion and absorption. At various periods in the history of muscular dystrophies, different scientists had associated various nutritional deficiencies with muscular dystrophy. Vitamin E was the culprit by the anti-oxidant theory of which the main proponents were Alan Tappel in 1953 and Karl Folkers in 1960 (New Scientist, 1971). Folkers believed that the absence of ubiquinone caused a disturbance in the electron-transport system which then led to muscular dystrophy. In 1957, Klaus Schwarz indicated that selenium was as significant in the muscular dystrophy theories. In 1971, Lucy and Diplock had propounded that both selenium and Vitamin E were found on the membrane surfaces of cells in the process of electron transport (New Scientist, 1971). Johanson attributed the illness to the inability at the molecular level to synthesize the proteins needed to form and maintain healthy muscles (2008). Vitamin E had been considered an anti-oxidant apart from it being fat-soluble. Its anti-oxidant action in the interior part of the membranes protected the cell from the peroxidation of lipid (Rafique et al, 2001). The saturation of the membrane lipids depended on the distribution of the Vitamin E. Mitochondria were known to have an abundance of Vitamin E but it was not known which of the membranes, outer or inner, had more of the vitamin. Vitamin E or tocopherol joined with the free radicals to form anti-oxidant defenses. Its deficiency caused problems of lipid peroxidation and disturbances in the mitochondrial respiratory chain. “Ataxia, areflexia, large fiber sensory neuropathy and muscle weakness clinically similar to Frederich’s ataxia” constituted the neurological syndrome seen with Vitamin E deficiency (Rafique et al, 2001). Friedrich’s ataxia had been associated with a genetic mutation which involved a mitochondrial protein known to regulate handling of the mitochondrial iron causing a mitochondrial respiratory chain dysfunction. This concept also supported the idea that Vitamin E deficiency could disturb the mitochondrial function (Rafique et al, 2001). Rafique et al found that deficiency of Vitamin E maintained for a long period produced a neurological syndrome with dysfunction of the neurons and skeletal muscles (2001). Rats were found to have muscular dystrophy leading to necrotising myopathy and axonopathy while the liver mitochondria were not affected. And so it was concluded that long-term deficiency of Vitamin E produced no damage in the cells (Rafique, 2001). It was indicated that Vitamin E was also seen as anti-oxidant in the cytosol. DeBruyne et al had stipulated that even though Vitamin E deficiency had been associated with muscular dystrophy, administration of Vitamin E did not cure hereditary muscular dystrophy (2008). They also noted that disabilities like muscular dystrophies needed only lesser energy for daily activities. Vitamin E deficiency was associated with malabsorption of fat in adults (DeBruyne, 2008). It was usually seen in liver diseases, pancreatic illnesses, gall bladder illnesses and other hereditary illnesses. Disabilities that produced obstacles in food procurement were also responsible for nutritional deficiencies (DeBruyne et al, 2008). Years of avoiding fat could present with Vitamin E deficiency in normal people. Drastic heating of foods could also cause the Vitamin E deficiency. Duchenne’s muscular dystrophy did not have dystrophin at the sarcolemma of the muscles (Cui et al, 2007). Cui’s study examined whether an endometrial progenitor could repair muscle degeneration in a murine model with muscular dystrophy (2007). It was found that dystrophin was implanted in the mice with dystrophy. The study indicated that the transfer of menstrual blood from normal mice to mice with muscular dystrophy produced dystrophin following fusion between host muscle cells and transferred cells (Cui et al, 2007). Another mechanism had also been considered: differentiation of the implanted cells by the myocytes. Duchenne’s muscle dystrophy had been described as a “devastating X-linked muscle disease characterized by liver diseases, pancreas illnesses and progressive muscle weakness attributable to a lack of dystrophin expression at the sarcolemma of muscle fibers” (Rodriguez et al, 2005). Menstrual blood-derived cells had been shown to have a good level of replicability in comparison with marrow-derived stromal cells (Cui et al, 2007). Nutritional deficiency was a significant feature of oculopharyngeal muscular dystrophy. This illness was also genetic in origin as an autosomal dominant disorder (Christopher et al, 2001). It occurred later in life and was slowly progressive. Ptosis and progressive dysphagia were the symptoms apart from aspiration. Finally the patient suffered from malnutrition or nutritional deficiencies and aspiration. Nearly 80% of patients with this disorder were managed with upper oesophageal myotomy (Christopher et al, 2001). Total success or partial improvement resulted. Long-term follow-up showed a recurrence of the dysphagia and the aspiration. Crico-pharyngeal myotomy produced fairly good results. Combined Selenium and Vitamin deficiency was the common nutritional deficiency associated with muscular dystrophy (McDowell, 2003). The skeletal and cardiac muscle, both striate, showed Zenker’s degeneration. White striations were found in muscle bundles due to the connective tissue replacement. Research had connected muscular dystrophy to Selenium content of soil (McDowell, 2003). Research in nutritional deficiencies in muscular dystrophy had mostly been done in animals. Rats which were given a diet free of Vitamin E for 48 weeks were found to have no Vitamin E in their muscles and liver but high levels of malondialdehyde were found in them (Rafique et al, 2001). The mitochondria respiratory chain showed lowered activity in the skeletal muscles while liver MRC became more active. Records in the State Veterinary Medical Institute of Stockholm indicated that the swine industry had muscular dystrophy and toxic liver dystrophy. Swine with Selenium-Vitamin E deficiency died suddenly without prior symptoms (McDowell, 2003). Sometimes they had difficulty in mobility and icterus. Piper et al (1975 in McDowell, 2003) described the pathological lesions as hepatic necrosis of a large proportion, degenerative myopathy of the striate muscles, icterus, renal involvement and a bleeding tendency. These animals were given a diet rich in selenium and vitamin E, surprisingly reverting the problems. Frequently-reproducing sows soon went into selenium depletion. Poultry exhibited nutritional muscular dystrophy, exudative diathesis and pancreatic atrophy. The latter two conditions were treated with selenium prophylactically while muscular dystrophy was prevented with a diet rich in selenium containing amino-acids and Vitamin E. Lambs and calves showed an initial thickening of muscles of their rear but later they thinned down and appeared sick. The conditions in animals were reversible as genetic causes were not present. Conclusion Muscular dystrophy (MD) referred to a “group of more than 30 genetic diseases that caused progressive weakness and degeneration of skeletal muscles used during voluntary movement” (NINDS, 2011). Genetic tests diagnosed and genetic counseling prevented the illness. Nutritional deficiencies associated were the Vitamin E and selenium deficiencies mainly. Inadequate procurement, inadequate intake and dysmotility of the gastro-intestinal tract were three significant reasons for deficiencies in muscular dystrophy. These could be managed with care. Several mechanisms had been propounded for the dystrophy. The absence of dystrophin at the sarcolemma was indicated by Rodriguez et al (2005) and Cui et al (2007). More research was done in animals. Muscular dystrophies in animals were however not as severe as in humans. Future research needs to focus on reaching the actual cause molecularly so that genetic engineering could play a role in preventing the mutated gene from expressing itself. References: Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, July 27, 2005 http://www.ninds.nih.gov/disorders/md/detail_md.htm Christopher, K., Horkan, C., Patterson, R.B. and Yodice, P.C. (2001). Oculopharyngeal Muscular Dystrophy Complicating Airway Management. Chest 2001;120;2101-2103 DOI 10.1378/chest.120.6.2101. American College of Chest Physicians. Cui, C.,Uyama, T., Miyado, K., Terai, M. Kyo, S., Kiyono, T. and Umezawa, A.(2007) Menstrual Blood-derived Cells Confer Human Dystrophin Expression in the Murine Model of Duchenne Muscular Dystrophy via Cell Fusion and Myogenic Transdifferentiation. Molecular Biology of the Cell. Vol. 18, 1586–1594, May 2007 DeBruyne, L.K., Pinna, K., Whitney, E.N. and Whitney, E. ( 2008). Nutrition and Diet: Principles and Practice. Cengage Learning, 2008 Medical. Emery, A.E.H.( 2008) Muscular dystrophy Oxford University Press, Oxford, USA Medical. Fischman, D. (2009). Skeletal muscle & muscular dystrophy: a visual approach. Morgan & Claypool Publishers Johanson, P. (2008). Muscular dystrophy. First Ed. Rosen Publishing Group Inc.. Medical. New York Lewin, R. (1971). Vitamin E: The rise of a new theory, New Scientist, Vol. 50, No. 747 ISSN 0262-4079, Published by Reed Business Information McDowell, L.R. (2003). Minerals in animal and human nutrition.2nd Ed. Elsevier Health Sciences, Medical. Motlagh, B., MacDonald, J.R., Tarnopolsky, M.A.(2005). Nutritional inadequacy in adults with muscular dystrophy.Muscle Nerve. 2005 Jun;31(6):713-8. NINDS National Institute of Neurological Disorders and Stroke. Muscular Dystrophy: Hope through research. Updated on Sept. 9th 2011 http://www.ninds.nih.gov/disorders/md/detail_md.htm Department of Health and Human Services Rafique, R., Schapira, A.H. V. and Cooper, J.M. (2001). Sensitivity of respiratory chain activities to lipid peroxidation : effect of vitamin E deficiency. Biochem. J. (2001) 357, 887±892 (Printed in Great Britain) Rodriguez, A. M. et al. (2005). Transplantation of a multipotent cell population from human adipose tissue induces dystrophin expression in the immunocompetent mdx mouse. J. Exp. Med. 201, 1397–1405. Read More