cellular level of pathologies

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• defect in a protein that functions as a chloride ion channel --> ion channel doesnt work cystic fibrosis
• gain of function and overactivation of the FGFR3 gene --> leads to inhibition of chondrocyte proliferation and differentiation achondroplasia
• gain of function of FGFR3 gene, ossification is slowed down however this is the least severe variant of its kind hypochondroplasia
• this pathology has overactivation of the FGFR3 protein which means that this receptor can work even without its ligand (fibroblast growth factors), leads to severe pathology SADDAN
• FGFR3 overactivation, short limbs, narrow chest and underdevelopment of thorax thanatophoric dysplasia
• reduced expression of LDL receptor/reduced affinity of receptor and LDL, loss of function familial hypercholesterolemia
• patient lacks the enzyme protoporphyrinogen oxidase, which means that person cannot turn porphyrin into heme, loss of function variegate porphyria
• the normal function of HFE is defect, dysregulation of iron metabolism haemochromatosis
• deficiency of enzyme phenylalanine oxidase --> accumulation of phenylalanine, cannot break down phenylalanine phenylketonuria
• it is caused by mutations in the LAMP2 gene, leading to impaired autophagy and lysosomal dysfunction, causes accumulation of autophagic vacuoles danon disease
• deletion of the AZF (azoospermia factor) of the gene azoospermia, oligozoospermia
• The SHOX protein plays a critical role in regulating chondrocyte differentiation and bone formation, and mutations in the SHOX gene disrupt these processes, resulting in short stature and skeletal abnormalities leri weil syndrome
• caused by genetic mutations affecting the genes responsible for the production of photopigments (opsin) in cone cells of the retina. daltonism
• factor VIII 8 is missing (not produced properly or in reduced amount), thus interrupting the cascade and leading to a deficiency in the coagulation activity and a continuous bleeding. haemophilia A
• factor IX 9 is missing, thus interrupting the cascade and leading to a deficiency in the coagulation activity and a continuous bleeding. Loss of function! haemophilia B

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