2.

CAUSES OF OSTEOGENESIS IMPERFECTA DISEASE

OI IS CAUSED BY DEFECTS IN OR RELATED TO A PROTEIN CALLED TYPE 1 COLLAGEN. COLLAGEN IS AN ESSENTIAL BUILDING
BLOCK OF THE BODY. THE BODY USES TYPE 1 COLLAGEN TO MAKE BONES STRONG AND TO BUILD TENDONS, LIGAMENTS,
TEETH, AND THE WHITES OF THE EYES. CERTAIN GENE CHANGES, OR MUTATIONS, CAUSE THE COLLAGEN DEFECTS. ( FROM
PPT)

COLLAGENS are a family of proteins that strengthen and support many tissues in the body, and

TYPE 1 COLLAGEN is the most abundant protein in the bone, skin, and other connective tissues that are providing structure
and strength to the body.

What Causes Brittle Bone Disease?

Brittle bone disease is caused by a defect, or flaw, in the gene that produces type 1 collagen that is usually
inherited. In some cases, a genetic mutation, or changes , can cause it.

 Mutations in other genes can cause rare forms of OI or typically alter the structure of type 1 collagen molecules,
resulting in abnormal collagen.
 The defect in the genes causes the body to make collagen incorrectly or not make enough resulting in more
severe bone abnormalities or leading to weak bones that break more easily, or
 Caused by a faulty gene that affects the body's ability to produce collagen. Also
 Inheritance. OI is passed on through the genes, and about 80%- 90% autosomal dominant pattern of inheritance,
which means one copy of the altered gene in each cell is sufficient to cause the condition.
 Or the gene can be passed on from an unexplained change (spontaneous mutation) of a gene.

IN CHILD :

 If one parent has OI, a child has a 50% chance of having the condition.
 Most babies with OI have a defect of one of two genes. These genes help in forming collagen.
 Sometimes, it is not inherited and neither parent has osteogenesis imperfecta. Instead, the change happens early
in pregnancy when the baby is forming.

People who have brittle bone disease born with :

 They either don't have enough collagen in their bones or the collagen doesn't work as it should that makes their
bones weaker and more brittle than normal bones.
 It also can lead to abnormally shaped bones.
3. What age group, gender, cultural group is most affected by osteogenesis imperfecta?

 Infants who have recognizable OI at birth

 OI usually occurring during childhood through puberty.
 People with a family history of the disease are at greater risk of inheriting the disease through an abnormal gene
that is passed on from one or both parents
 OI affects all genders, races and ethnic groups equally.

ADDITIONAL INFO:

TYPE 1 COLLAGEN, Also form bones and is encoded by the COL1A1 AND COL1A2 (Collagen type 1, alpha 1 & 2)
genes, located on chromosomes 17 and 7.

COL1A1 AND COL1A2. These genetic changes can reduce the amount of type 1 collagen produced in the body
through the molecules that are produced normal.

Collagens are a family of proteins that strengthen and support many tissues in the body, including cartilage, bone,
tendon, skin, and the white part of the eye (the sclera).

• COL1A1 - ( Collagen, type l, alpha 1 gene) also known as alpha-1 type I collagen is a protein that in humans.
COL1A1 encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including
cartilage.

• COL1A2 - ( Collagen type 1, Alpha 2 ) gene provides instructions for making part of a large molecule called type I
collagen.

MANIFESTING NA MAMEMIRIZE ANG SCRIPT :

so OSTEOGENESIS IMPERFECTA is caused by a a genetic mutation, or changes.

 Mutations in other genes in COL1A1 and COL1A2 can cause rare forms of OI or alter the structure of type 1
collagen resulting in abnormal collagen. and
  The defect in the genes causes the body not to make enough collagen resulting in more severe bone abnormalities
or weak bones that break more easily. also the
 Inheritance. OI is passed on through the genes, and about 80%- 90% autosomal dominant pattern of inheritance,
which means one copy of the altered gene in each cell is sufficient to cause the condition.
 Sometimes, it is not inherited and neither parent has osteogenesis imperfecta. Instead, the change happens early
in pregnancy when the baby is forming.
 Or the gene can be passed on from an unexplained change (spontaneous mutation) of a gene.

IN CHILD :

 If one parent has OI, a child has a 50% chance of having the condition.
 Most babies with OI have a defect of one of two genes. These genes help in forming collagen.

3. What age group, gender, cultural group is most affected by osteogenesis imperfecta?

 Infants who have recognizable OI at birth

 OI usually occurring during childhood through puberty.
 People with a family history of the disease are at greater risk of inheriting the disease through an abnormal gene
that is passed on from one or both parents
 OI affects all genders, races and ethnic groups equally.