Glossary of Terms

Click on a word/phrase below to see its definition.

Insertion Mutation

Insertion Mutation

DNA is the genetic language and is read from left to right in 3 letter words. Let us say a normal piece of DNA says “THE MAN HAS CAT AND HAT” . DNA language does not have spaces so in DNA language, above would read: THEMANHASCATANDHAT. In an insertion, one or more letters are inserted. If two letters BX and were inserted after MAN, reading the genetic language in DNA would not make sense: THE MAN BXH ASC ATA NDH AT.

Intron

Intron

An exon is the part of the gene that codes for the actual protein. On the chromosome the exons that make up the coding sequence for the protein are separated by introns. Upon reading of the gene, the cell cuts out the introns and puts the exons together (a process called splicing) so that the exons are now continuous with all the information necessary to make a protein. Mutations usually affect the information in exons or the way they are spliced together.

Genes have both noncoding (introns) and coding (exons) regions. The noncoding regions contain genetic information that gets cut out when the genetic information goes from DNA to RNA and is not integral to protein manufacture. Point mutations in the introns usually have no effect, unless they cause a shift in the reading frame through an insertion or deletion. Exons contain the actual genetic information that will be used to manufacture proteins. Point mutations, insertions, duplications and deletions all are types of mutations that change the genetic code and can lead to disease.

IPPB

IPPB

Intermittent positive pressure breaths/ventilation; a type of breathing exercise to promote more effective aeration of the lungs.

IPPV

IPPV

Intermittent positive pressure breaths/ventilation; a type of breathing exercise to promote more effective aeration of the lungs.

iPSC

iPSC

Induced-Pluripotent-Stem-Cell is a cell that has been reprogrammed to behave like an embryonic stem cell from an adult cell

iPS Cell Line

iPS Cell Line

Induced-Pluripotent-Stem-Cell is a cell that has been reprogrammed to behave like an embryonic stem cell from an adult cell

Keloids

Keloids

A condition causing thickened, raised scars

Kyphosis

Kyphosis

An abnormal, curvature of the upper or thoracic region of the spine resulting in a hunched posture

LAMA2

LAMA2

A CMD Subtype that results from gene defects in the laminin-alpha2 gene affecting the production of merosin protein in the muscle cell.

Laminopathy

Laminopathy

A CMD Subtype that results from gene defects in the lamin A/C (LMNA) gene affectings production of lamin A and lamin C prteins within the nucleus of cells.

LINQ Monitor

LINQ Monitor

An implantable cardiac device to monitor (up to 3 years) heart rhythms and function

LMNA

LMNA

A CMD Subtype that results from gene defects in the lamin A/C gene affectings production of lamin A and lamin C prteins within the nucleus of cells.

Lordosis

Lordosis

An abnormal curvature of the lower or lumbar region of the spine resulting in a swaybacked posture

Losartan

Losartan

A commonly prescribed FDA-approved medication (an angiotensin II receptor antagonist) for hypertension which demonstrated clinical improvement and amelioration of fibrosis in the LAMA2-CMD mouse model.

Lumbar

Lumbar

Pertaining to the bones in the lower region of the spine