How mutations affect health and tooth development Flashcards
Stabilizes the amorphous Ca-P phase, control of apatite crystal morphology and organization, control of enamel thickness. Amelogenins have the ability to self-assemble into nanosperes and thereby guide HAP crystal formation/growth
Amelogenin
_____ dentinogenesis usually occur in people without other inherited disorders.
Type II and Type III dentinogenesis
Matrix metalloproteinase which cleave amelogenin.
Enamelysin (MMP20):
is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss.
Dentinogenesis imperfecta
mutation resulting in an altered protein that reduces or inhibits the function of another normal protein in the cell.
Dominant negative
______ is a new gene responsible for amelogenesis imperfecta with less functional information; stage-specific regulator of enamel mineralization (maturation stage-specific phenotypes)
WRD72
Over ______ genes identified that have mutations associated with tooth patterning, morphogenesis defects and cell differentiation defects
300 genes
disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth.
Amelogenesis imperfecta
_____ diseases often present in consanguineous marriages
Autosomal recessive diseases
_______ mutations are often more deleterious than mutations causing the production of no gene product (cancer).
dominant negative
Cooperates with amelogenin to control mineral nucleation and elongated growth
Enamelin
_______ is another new gene responsible for amelogenesis imperfecta (little functional information); encodes a peptide with In Vitro Hydroxyapatite crystal nucleation and growth activity
C4orf26
___ diseases are not caused by the presence of other diseases
Non-syndromic diseases
Cleaves amelogenin, ameloblastin and enamelin at the secretory stage to produce stable intermediates with defined functions.
Mmp-20
_____ has been a potential candidate genes for amelogenesis imperfecta
Amelotin
A deficiency of ______ had been suggested as a causative factor in dentinogenesis imperfecta
dentin sialophosphoprotein (DSPP)
Enamelysin (MMP20) are Matrix metalloproteinase which cleave _____
amelogenin
Digests enamel proteins during maturation stage facilitating their removal and hardening the final layer of enamel
Kallikrein 4
________ dentinogenesis occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. The primary teeth tend to be more severely affected than the permanent teeth.
Type I dentinogenesis
_____ is a novel responsible gene for oligodontia discovered by exome sequencing
LRP6
a genetic condition in which bones are brittle and easily broken
osteogenesis imperfecta
As a collective group _____ genetic diseases are the most common
craniofacial genetic diseases
Genetic diseases of the ______ include Malocclusion syndromes, craniofacial malformations, bone mass traits, tooth agenesis, tooth movement, and tooth development disorders
dentition
mutation that results in increased function or new function in a protein.
Gain-of-function mutation
Cell adhesion protein, controls cell differentiation, maintains rod integrity
Ameloblastin
~186kDa protein and ~5% of the enamel matrix.
Enamelin
T/F: Tooth developmental defects should perhaps be thought of as a potential risk factor for other diseases that manifest later in life.
True
______ diseases occur when you have another disease that affects tooth issues
Syndromic
______ (gene) is a master regulator of osteoblastogenesis and bone formation; Characterized by delayed closure of the sutures, aplastic or hypoplastic clavicle formation, short stature and dental abnormalities.
RUNX2
T/F: The developmental signaling pathways that drive tooth development are also critical in the development of many other organs
True
In type ____ dentinogenesis the dentin is extremely thin and pulp chamber is extremely enlarged
type 3 dentinogenesis
Absence results in dysfunction. Mutations results in less or no function of certain proteins. Many autosomal recessive cases in enzyme deficiency
Loss-of-function mutation
~70kDa protein. ~10% of enamel matrix. 4q21.
Ameloblastin
_____ occurs as part of osteogenesis imperfecta, which is caused by mutations in one of several other genes
Dentinogenesis imperfecta type I
Teeth in type 3 dentinogenesis are called ______ teeth
shell teeth
reduced gene dosage resulting in insufficient protein being made and diminished functioning of the cell.
Haploinsufficiency:
main protein important in forming enamel. Xp22, X-linked amelogenesis imperfecta
Amelogenin
Serine protease which digest enamel matrix
Kalliklein 4 (KLK4)
____ is a responsible gene for oligodontia
Keratin 17
An _____ (gene) mutation impairs Wnt/b-catenin signaling in human results in tooth agenesis and colorectal cancer.
AXIN2
mutation that results in an absence of function.
Loss-of-function mutation
Ectodermal dysplasia involve ______
teeth, hair, nails, and tears
