Presentation on theme: "By Stephen Monahan. Genes on chromosome 3 include ABHD5,ALAS1, AMT,ATP2B2, and BCHE Chromosome 3 contains between 1,100 to 1,500 genes where ABHD5,ALAS1,"— Presentation transcript:
Genes on chromosome 3 include ABHD5,ALAS1, AMT,ATP2B2, and BCHE Chromosome 3 contains between 1,100 to 1,500 genes where ABHD5,ALAS1, AMT,ATP2B2, and BCHE are all located
ABHD5 provides instructions that makes a protein which turns on an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme helps breaking down fats called triglycerides, which is the main source of stored energy in cells
The ALAS1 gene provides instructions for making an enzyme called delta- aminolevulinate synthase 1 or ALA-synthase. Only in developing red blood cells, is the ALAS1 Gene turned on
The AMT gene provides instructions to make the enzyme called aminomethyltransferase. This enzyme is one component that make up a complex called glycine cleavage enzyme. This complex is active in mitochondria.
The ATP2B2 gene provides instructions to make the enzyme called plasma membrane calcium-transporting ATPase 2 (PMCA2). This enzyme helps control the level of positive calcium atoms in cells
The BCHE gene provides instructions for making the pseudocholinesterase enzyme The liver produces the enzyme and the enzyme circulates in the blood
Boomerang dysplasia is a disorder that affects development of bones throughout the body. Individuals that are born with the disorder have inward- and upward-turning feet. Bones may be underdeveloped or absent in the spine, rib cage, pelvis, and limbs. As a result, individuals with this condition have short arms and legs. As a result, individuals are usually stillborn or die shortly after birth from respiratory failure. Approximately 10 individuals that have been affected have been identified. This condition is inherited in a autosomal dominant pattern Most cases result from mutations in the gene and occur in people with no history of the disorder in their family.
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is an condition that affects the skeleton. The rate at which symptoms worsen varies among individuals. The first symptoms of MPS IV become apparent during early childhood. Individuals develop numerous skeletal abnormalities, including short stature, knock knees, and abnormalities of the ribs, chest, spine, hips, and wrists It is estimated that it affects 1 in 200,000 to 300,000 individuals. Individuals affected severely, may only survive until late childhood or adolescence. Individuals with lesser forms live into adulthood, although life expectancy is shorten. This condition is inherited in an autosomal recessive pattern The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but usually don’t show symptoms.
Mucopolysaccherdosis type IV treatment: Enzyme replacement therapy (ERT),  gene therapy, and allogenic bone marrow transplantation in which engrafted cells provide the normal enzyme. Boomerang Dysplasia treatment: Orthopedic Surgeon
Chromosome 3, Trisomy 3q2 is a rare chromosomal disorder Some symptoms include a short head, widely spaced eyes, upward slanting eyelid and a small nose with upturned nostrils
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