Patho Par4

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Autosomal dominant diseases

Back 1

Marfan's syndrome -- defective fibrillin 1 (glycoprotein in matrix for elastic fibers)

Neurofibromatosis -- multiple neurofibromas on skin, nodules in iris 30-50% skeletal defects

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Autosomal recessive diseases

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Cystic fibrosis -- most common lethal autosomal recessive disorder among caucasians in US and Europe.
- defect in Cl- transport across epithelium due to defective cystic fibrosis transmembrane regulators (CFTR) Deletion of 3bp - Phe at 508

Phenylketonuria -- decreased Phe hydroxylase --> hyperphenylalaninemia

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Lysosomal storage diseases

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**Relatively rare, usually autosomal recessive hereditary

"Not Much To Go"

1) Niemann-Pick disease
- deficiency of sphingomyelinase --> accumulation of sphingomyelin in bone marrow= anemia

2) Mucopolysaccharidoses
- 7 types: involve heart, liver, spleen, blood vessels
- Coarse facial features (gargoylism), cloudy cornea, joint stiffness, mental retardation
- Hurler syndrome (auto-rec) and Hunter syndrome (sex-linked)

3) Tay-Sachs Disease
- Jews of eastern european origin
- Deficiency of hexosaminidase --> accumulation of GM2-ganglioside in heart, liver, spleen, neurons, retina.
- Results in blindess, mental deterioriation

4) Gaucher's disease
- Accumulation of glucocerebrosides (fatty substance) in R-E cells
- Splenohepatomegaly, skeletal deformities, anemia

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Glycogen storage diseases (Glycogenoses) -- deficiency of glycogen processing enzymes

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"PMV instead of DMV"

1) Pompe disease -- deficiency of lysosomal maltase
- cadiomegally --> progressive weakness

2) McArdle disease -- deficiency of muscle phosphorylase --> muscle cramping "McGriddle"

3) Von Gierke's disease --> deficiency of glucose-6-phosphatase (storage in liver => hepatomegaly)

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Klinefelter's syndrome

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47, XXY due to non-disjunction

- Hypogonadism, gynecomastia, testicular atrophy (decreased testosterone), sterile, taurdontism, disproportionally long legs

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XYY syndrome

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Tall with antisocial behavior "supermale"
Acne

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Turner's syndrome

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45X or 46,X,i(Xq-) -- isochromosome of long arm of X w/ deletion of short arm

- Hypogonadism (atrophic ovaries w/ decreased estrogens), amenorrhea, short stature, web neck, low hairline, cubitis valgus, shield chest

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Fragile X syndrome

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- Discontinuous staining of long of X chromosome

- Common cause of severe mental retardation, due to multiple repeats of CGG

- Believed abnormal protein is produced, results in loss of regulation of other protein translations.

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Mitochondorial DNA diseases

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- Transmitted by only females to either sex

- Random expression

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Genomic imprinting -- some genes are inactivated during gametogenesis in either the mother or the father

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Prader-Willi Syndrome -- imprinting of Chr 15 from father (mental retardation, hypogonadism)

Angelman syndrome ( "happy puppet syndrome" ) -- imprinting of Chr 15 from mother (mental retardation, laughter, ataxia)