Sandbox GGC2: Difference between revisions

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Further, diseases of (REWORD THIS) Human Hexokinase can also result in diseases that affect the nervous system. A nervous system disease associated with the protein is neuropathy, '''hereditary motor and sensory, Russe type (HMSNR)''', also known as '''Charcot-Marie-Tooth''' disease. Laboratory studies suggest that this disease is caused by a mutation in a 26 kb range in upstream exons in the Human Hexokinase 1 gene. HMSNR is also autosomal recessive and is usually apparent in the first 10 years of life, characterized by muscular atrophy and impairment in the distal lower limbs. This weakness and atrophy results in those affected by the disease experiencing difficulty walking. HMSNR can later develop into weakness in the distal upper limbs and the proximal lower limbs. It is suspected that this disease is a result of demyelination of the neuronal axon which in turn has negative effects on neuron action potential velocity <ref>PMID:19536174</ref>.

Another nervous system disease is a '''neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)'''. This disease is found to primarily impact the brain and is characterized by speech delay, intellectual disability, structural brain abnormalities, and visual impairments. The disease is caused by mutations in the 414 position (G → E), the 418 position (K → E), the 445 position (S → L), and in the 457 position (T → M) <ref>PMID:30778173</ref>.

</StructureSection>

Another nervous system disease is a '''neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)'''. This disease is found to primarily impact the brain and is characterized by speech delay, intellectual disability, structural brain abnormalities, and visual impairments. The disease is caused by mutations in the 414 position (G → E), the 418 position (K → E), the 445 position (S → L), and in the 457 position (T → M) <ref>PMID:30778173</ref>.

'''Retinitis pigmentosa''' is also a disease caused by mutation of the <scene name='75/752269/Oliver_glu847/2'>Glutamate</scene> residue in the 847 positions to a Lysine in Human Hexokinase 1. This disease is an autosomal dominant disease. Retinitis pigmentosa is a form of retinal dystrophy and is characterized by retinal pigment deposits. There is also a loss of both the rod and cone photoreceptors in the eye. Patients typically experience visual difficulty in poorly lit environments and loss of the mid-peripheral visual field. As the condition progresses, patients continue to experience deterioration of the visual field <ref>PMID:25190649</ref><ref>PMID:25316723</ref>.

Sandbox GGC2: Difference between revisions

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@@ Line 15: / Line 15: @@
 Further, diseases of (REWORD THIS) Human Hexokinase can also result in diseases that affect the nervous system. A nervous system disease associated with the protein is neuropathy, '''hereditary motor and sensory, Russe type (HMSNR)''', also known as '''Charcot-Marie-Tooth''' disease. Laboratory studies suggest that this disease is caused by a mutation in a 26 kb range in upstream exons in the Human Hexokinase 1 gene. HMSNR is also autosomal recessive and is usually apparent in the first 10 years of life, characterized by muscular atrophy and impairment in the distal lower limbs. This weakness and atrophy results in those affected by the disease experiencing difficulty walking. HMSNR can later develop into weakness in the distal upper limbs and the proximal lower limbs. It is suspected that this disease is a result of demyelination of the neuronal axon which in turn has negative effects on neuron action potential velocity <ref>PMID:19536174</ref>.
+Another nervous system disease is a '''neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)'''. This disease is found to primarily impact the brain and is characterized by speech delay, intellectual disability, structural brain abnormalities, and visual impairments. The disease is caused by mutations in the 414 position (G → E), the 418 position (K → E), the 445 position (S → L), and in the 457 position (T → M) <ref>PMID:30778173</ref>.
 </StructureSection>
-Another nervous system disease is a '''neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)'''. This disease is found to primarily impact the brain and is characterized by speech delay, intellectual disability, structural brain abnormalities, and visual impairments. The disease is caused by mutations in the 414 position (G → E), the 418 position (K → E), the 445 position (S → L), and in the 457 position (T → M) <ref>PMID:30778173</ref>.
 '''Retinitis pigmentosa''' is also a disease caused by mutation of the <scene name='75/752269/Oliver_glu847/2'>Glutamate</scene> residue in the 847 positions to a Lysine in Human Hexokinase 1. This disease is an autosomal dominant disease. Retinitis pigmentosa is a form of retinal dystrophy and is characterized by retinal pigment deposits. There is also a loss of both the rod and cone photoreceptors in the eye. Patients typically experience visual difficulty in poorly lit environments and loss of the mid-peripheral visual field. As the condition progresses, patients continue to experience deterioration of the visual field <ref>PMID:25190649</ref><ref>PMID:25316723</ref>.