Editing Abetalipoproteinemia (section)

==Genetics==

[[Image:autorecessive.svg|thumb|right|Abetalipoproteinemia has an autosomal recessive pattern of [[inheritance]].]]

Mutations in the [[microsomal triglyceride transfer protein]] gene (''MTTP'') have been associated with this condition<ref name="titleAbetalipoproteinemia - Genetics Home Reference">{{Cite web |title=Abetalipoproteinemia |url=http://ghr.nlm.nih.gov/condition=abetalipoproteinemia |access-date=2008-02-24 |website=Genetics Home Reference |publisher=U.S. National Library of Medicine}}</ref> ([[apolipoprotein B deficiency]], a related condition, is associated with deficiencies of [[apolipoprotein B]]).<ref name="pmid22353470">{{Cite journal |vauthors=Hussain MM, Rava P, Walsh M, Rana M, Iqbal J |date=February 2012 |title=Multiple functions of microsomal triglyceride transfer protein |journal=Nutrition & Metabolism |volume=9 |pages=14 |doi=10.1186/1743-7075-9-14 |pmc=3337244 |pmid=22353470 |doi-access=free}}</ref>

The ''MTTP'' gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins.<ref name="pmid23556456">{{Cite journal |vauthors=Najah M, Youssef SM, Yahia HM, Afef S, Awatef J, Saber H, Fadhel NM, Sassolas A, Naceur SM |date=April 2013 |title=Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene |journal=Diagnostic Pathology |volume=8 |issue=1 |pages=54 |doi=10.1186/1746-1596-8-54 |pmc=3632489 |pmid=23556456 |doi-access=free}}</ref> These lipoproteins are both necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and necessary for the efficient transport of these substances in the bloodstream.<ref name="pmid23043934">{{Cite journal |vauthors=Magnolo L, Najah M, Fancello T, Di Leo E, Pinotti E, Brini I, Gueddiche NM, Calandra S, Slimene NM, Tarugi P |date=January 2013 |title=Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia |journal=Gene |volume=512 |issue=1 |pages=28–34 |doi=10.1016/j.gene.2012.09.117 |pmid=23043934}}</ref> Most of the mutations in this gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body.<ref name="pmid21394827">{{Cite journal |vauthors=Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, Sassolas A, Lévy E, Tercé F, Collet X, Mas E |date=July 2011 |title=A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP) |url=https://hal.archives-ouvertes.fr/hal-00651635/document |journal=Human Mutation |volume=32 |issue=7 |pages=751–9 |doi=10.1002/humu.21494 |pmid=21394827 |s2cid=28693034 |doi-access=free}}</ref> MTTP-associated mutations are inherited in an [[autosomal]] [[recessive]] pattern, which means both copies of the gene must be faulty to produce the disease.<ref name="pmid21394827" />

The disease is extremely rare with approximately 100 reported cases worldwide since it was first identified by doctors Bassen and Kornzweig in 1950.<ref name="GHR" />