Diseases for Cell Biology

IFs

Cilia Diseases

Peroxisome
Diseases

Lysosomal Storage Mitochondria

Diseases
Diseases

DNA Repair Defects

Disease
Xeroderma pigmentosum

Heritance
AR

Clinical Manifestation
Cutaneous photosensitivity to UV
radiation
Poor growth, neurological
degeneration, early senility
Cancer susceptibility, susceptible to UV
radiation
Motor incoordination, immune
deficiency, chromosomal breaks,
lymphomas (-radiation)

Gene/Protein Affected
Nucleotide excision repair
proteins (point mutation)
Nucleotide excision repair
proteins
Mismatch repair proteins

Function Affected
Genome-wide nucleotide excision repair

Protein kinase activated by

DNA double-strand breaks

Cell cycle arrest after DNA breakage, genomic instabilty

Poor growth, butterfly rash,

immunodeficiency, cancer
susceptibility, chromosome breaks
Early senility
Anemia, leukemia, skeletal deformities,
chromosome breakage
Breast and ovarian cancer

DNA helicase

Chromosomal repair due to alkylating agents

DNA helicase, exonuclease

Heterogenous at least 8
diff. proteins
BRCA1&2, interacts with
repair enzymes
Heterogenous
tRNALys, oxidative
phosphorylation complexes
I & IV
Electron transport

Unknown
Crosslink-repair

GNPTA gene, UDP-Nacetylglucosamine-1phosphotransferase

Failure of mannose-6-phosphate tagging of lysosomal enzymes directs them

to cell membrane

XR

Lysosomal glucosidase
Hexosaminidase A
Glucocerebrosidase
Sphingomyelinase
-L-Iduronidase
Peroxisomal enzymes

Glycogen metabolism
GM2 ganglioside metabolism
Glucocerebroside metabolism
Sphingomyelin metabolism
Heparan and dermatan SO4 metabolism
Insufficient fatty acid metabolism, deterioration of myelin sheath

AR

PXR1 receptor

Inability to import proteins into peroxisome, rendering them incapable of

function

Cilia
Cilia
Cilia
Cilia
Cilia
Cilia
Cilia

Nodal flow
Photoreception
Odorant reception
Mechanosensation
Gli repressor formation
Gli repressor or activator formation
Convergent extension

Permanent bronchodilation
(bronchiectasis), male sterility, chronic
rhinitis, sinusitis
Skin blisters after minor trauma

Cilia

Inability to move

Keratin genes 5, 14

Abnormal assembly of keratin filaments

Premature aging
Buildup of uric acid crystals at joints
Mental retardation, physical defects
Mental retardation in males

Nuclear lamins
Xanthine oxidase
Trisomy-21
RNA-binding protein in
RISC complex
Adenosine deaminase

Poor re-formation of nucleus after cell division, poor chromatin binding

Error in adenylate metabolism
Overexpression (1.5x) of genes on chromosome 21
Defect in translation repression

Fibrillin-1

Weak and unstable connective tissue

Melanin, tyrosinase

Tyrosine DOPA dopaquinone melanin pathway

Dystrophin

Improper growth of muscles

Cockaynes

AR

HNPCC

AD

Ataxia-telangiectasia

AR

Blooms

AR

Werners
Fanconi Anemia

AR
AR

Breast cancer
susceptibility
Spinocerebellar ataxia
MERRF

AR
AD,AR,XR

Lebers Hereditary Optic

Neuropathy

Delayed bilateral vision loss, distended

capillaries around optic nerve, optic
atrophy
Coarse facial features, skeletal
abnormalities, mental retardation

I-Cell Disease

Pompe Disease
Tay-Sachs Disease
Gaucher Disease
Neimann-Pick Disease
Hurler Syndrome
X-Linked
Adrenoleukodystrophy
Zellweger Syndrome

Mental retardation, death

Heterotaxia
Retinal degeneration
Anosmia
Polycystic Kidney Disease
Polydactyly
Neural patterning defects
Neural tube closure
defects
Kartageners Syndrome

Epidermolysis Bullosa
Simplex (EBS)
Progeria
Gout
Downs Syndrome
Fragile-X Syndrome
SCIDS

Other Genetic Diseases

Motor incoordination
Generalized muscle weakness, ataxia,
seizures, respiratory & cardiac failure

Marfan Syndrome

AD

Oculocutaneous albinism

AR

Duchennes Muscular
Dystrophy

XR

Osteogeneis imperfect
Neurofibromatosis-1

AD
AD

Myotonic dystrophy

Complex

Prader-Willi Syndrome

Imprinted
(Paternal)

Angelman Syndrome

Imprinted
(Maternal)

Susceptibility to opportunistic
infections
Arachnodactyly, aortic rupture, retinal
detachment, increased height and limb
length, myopia, mitral valve prolapse
Absence of pigment in hair, skin, and
eyes, nystagmus, photophobia,
reduced vision
Lack of coordination, muscle
pseudohypertrophy (esp. in calves),
elevated CK levels
Frequent fractures in young children
Caf-au-lait spots, fibrous skin tumors

Collagen
NF1 tumor suppressor
gene
Muscle wasting beginning in face and
Triple repeats (CTG) in
hands, myotonia (inability to relax post myotonin gene
contraction)
Diminished fetal activity, muscular
Chr-15 deletion
hypotonia, mental retardation, short
stature, hypogonadia, hyperphagia
Severe motor and intellectual
Chr-15 deletion (same as
retardation, ataxia, hypotonia,
Prader-Willi)
epilepsy, lack of speech, large jaw

Transcription-coupled nucleotide excision repair

Post-replication mismatch repair

Recombinational repair, transcription-coupled repair of oxidative damage

Repair or single-strand breaks
Oxidative phosphorylation; muscles and neurons most affected

Oxidative phosphorylation

Inability to metabolize adenosine to hypoxanthine

Failure to incorporate collagen or use of mutant collagen in connective tissue

Tumor suppression
Repeat expansion occurring in female meiosis rendering myotonin gene
inactive
Good at jigsaw puzzles for some reason

Happy puppet syndrome due to excessive laughter, jerky movement