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Genetic Diseases

Bio 1

Ana Cosme

on 28 April 2010

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Transcript of Genetic Diseases


common diseases compared to single gene inheritance and mitochondrial inheritance

caused by a combination of environmental factors and mutations in multiple genes

can occur in isolation or in familial aggregation
entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered. DIABETES •high blood sugar levels
•causes: insufficient insulin production, defective insulin production
•“sweet urine”
•symptoms: elevated blood sugar levels, fatigue, slow healing of wounds
ALZHEIMER'S DISEASE •impairment of memory
•disturbance in language and reasoning
•commonly develops after the age of 70
•"amyloid cascade hypothesis"
•short term memory, problems in abstract thinking, loss bladder and bowel control
caused by changes or mutations that occur in the DNA sequence of one gene.
when a gene is mutated so that its protein product can no longer carry out its normal function, a disorder can result. MITOCHONDRIAL DISORDER Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells.

Mitochondrial disorders may be caused by mutations, acquired or inherited, in mitochondrial DNA (mtDNA) or in nuclear genes that code for mitochondrial components.

They may also be the result of acquired mitochondrial dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Subacute Necrotizing Encephalomyelopathy mutations in mitochondrial DNA (mtDNA) or in nuclear DNA (gene SURF1[1] and some COX assembly factors) cause degradation of motor skills and eventually death. autosomal dominant an abnormality occurs when only one of the genes from one parent is abnormal. If the parent has the disorder, the baby has a 50 percent chance of inheriting it. autosomal recessive - an abnormality only occurs when both parents have abnormal genes. If both parents are carriers, a baby has a 25 percent chance of having the disorder. x-linked also caused by mutations in genes on the X chromosome Variegate Porphyria cystic fibrosis androgenetic alopecia
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