mucolipidosis type IV

ムコリピドーシスIV型、ムコ脂質症IV型

関

cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type I、mucolipidosis type II、mucolipidosis type III、pseudo-Hurler polydystrophy、sialidosis

WordNet

1. write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
2. a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
3. (biology) the taxonomic group whose characteristics are used to define the next higher taxon
4. a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
5. all of the tokens of the same symbol; "the word `element contains five different types of character"
6. printed characters; "small type is hard to read"
7. identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
8. the 9th letter of the Roman alphabet (同)i
9. writing done with a typewriter (同)typewriting

PrepTutorEJDIC

1. 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
2. 『私は』私が
3. iodineの化学記号

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/25 15:49:25」(JST)

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Mucolipidosis type IV
Classification and external resources
ICD-10	E75.1
OMIM	252650
DiseasesDB	32693
MeSH	D009081
GeneReviews	Mucolipidosis IV

Mucolipidosis type IV (ML IV or ML4) is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation channel, mucolipin1. These mutations disrupt cellular functions and lead to a neurodevelopmental disorder through an unknown mechanism. Researchers dispute the physiological role of the protein product and which ion it transports.

Symptoms and Signs

Most patients with ML IV show psychomotor retardation (i.e., delayed development of movement and coordination), corneal opacity, retinal degeneration and other ophthalmological abnormalities. Other symptoms include agenesis of the corpus callosum, iron deficiency resulting from an absence of acid secretion in the stomach, achlorhydria. Achlorhydria in these patients results in an increase in blood gastrin levels. These symptoms typically manifest early in life (within the first year). After disease onset there occurs a period of stability, typically lasting two to three decades during which very little disease progression occurs.

Pathophysiology

Mucolipidosis type IV has an autosomal recessive pattern of inheritance.

Mucolipin1 is thought to be localized in endosomes. An important property of mucolipin1 is that decreasing pH (acidification) results in deactivation of the protein, likely through an assembly defect. There are at least 29 known mutations in MCOLN1, located throughout the gene. Many of the known mutations result in no expression of mucolipin1. Milder mutations, such as ΔF408 and V446L, produce a dysfunctioning form of the cation channel. Mutations that alter only the C-terminal of the protein also result in a mild phenotype of the disorder, usually sparing the brain. ML IV causes affected cells to accumulate auto-fluorescent vacuoles considered to be aberrant lysosomes. Several evidences exist for a defect in both exocytosis and endocytosis. There are conflicting indications of abnormal lysosomal pH in MLIV. It is not yet clear why these abnormalities will cause incomplete development of the brain, achlorhydria, and failure in the maintenance of retinal tissue.

Treatment/Management

There is no specific treatment to this disorder. However, several symptoms may be alleviated. For instance, anemia is treated by iron supplements. Some of the movement deficiencies may be corrected with orthopedic intervention. The corneal clouding can be, at least, temporarily corrected by corneal transplantation. See the equivalent section in the main mucolipidosis article.

Epidemiology

Mucolipidosis type IV is severely under-diagnosed. It is often misdiagnosed as cerebral palsy. In the Ashkenazi Jewish population there are two severe mutations with a higher carrier frequency of 1:90 to 1:100.

References

External links

• Mucolipidosis type 4 at NIH's Office of Rare Diseases
• Mucolipidosis IV Foundation
• Gene Test Diagnostic Organization

UpToDate Contents

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

• 1. アシュケナージ系ユダヤ人集団における遺伝的疾患の出生前スクリーニング prenatal screening for genetic disease in the ashkenazi jewish population

English Journal

• A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.

• Mirabelli-Badenier M1, Severino M, Tappino B, Tortora D, Camia F, Zanaboni C, Brera F, Priolo E, Rossi A, Biancheri R, Di Rocco M, Filocamo M.
• Metabolic brain disease.Metab Brain Dis.2014 Aug 26. [Epub ahead of print]
• Mucolipidosis type IV (MLIV) is a very rare disorder of late endosome/lysosome transport, characterized by neurodevelopmental abnormalities and progressive visual impairment owing to corneal clouding and retinal dystrophy. Greater than 70 % of MLIV patients are of Ashkenazi Jewish ancestry. Here we
• PMID 25156245

• A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.

• Chen CC1, Keller M2, Hess M3, Schiffmann R4, Urban N5, Wolfgardt A6, Schaefer M5, Bracher F6, Biel M7, Wahl-Schott C7, Grimm C1.
• Nature communications.Nat Commun.2014 Aug 14;5:4681. doi: 10.1038/ncomms5681.
• Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder often characterized by severe neurodevelopmental abnormalities and neuro-retinal degeneration. Mutations in the TRPML1 gene are causative for MLIV. We used lead optimization strategies to identify-and MLIV patient fibr
• PMID 25119295

• Cellular Zinc Levels Are Modulated by TRPML1-TMEM163 Interaction.

• Cuajungco MP1, Basilio LC, Silva J, Hart T, Tringali J, Chen CC, Biel M, Grimm C.
• Traffic (Copenhagen, Denmark).Traffic.2014 Aug 6. doi: 10.1111/tra.12205. [Epub ahead of print]
• Mucolipidosis type IV (MLIV) is caused by loss of function mutations in the TRPML1 ion channel. We previously reported that tissue zinc levels in MLIV were abnormally elevated; however, the mechanism behind this pathologic accumulation remains unknown. Here, we identify transmembrane (TMEM)-163 prot
• PMID 25130899

• Microvilli as markers of disordered apical-membrane trafficking and assembly: bowel and liver.

• Thompson RJ1, Knisely AS.
• Hepatology (Baltimore, Md.).Hepatology.2014 Jul;60(1):34-6. doi: 10.1002/hep.27148. Epub 2014 May 12.
• PMID 24668851

Japanese Journal

• Mucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation

• TUYSUZ Beyhan,GOLDIN Ehud,METIN Baris,KORKMAZ Baris,YALCINKAYA Cengiz
• Brain & development 31(9), 702-705, 2009-10-01
• NAID 10026412825

• Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

• SUN M
• Hum Mol Genet 9(17), 2471-2478, 2000
• NAID 30018401812

Related Links

• Mucolipidosis type IV - Genetics Home Reference

Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form ...

• Mucolipidosis type IV - National Center for Biotechnology ...

Mucolipidosis type IV (MLIV) is a lysosomal storage disorder characterized by severe neurological and ophthalmologic abnormalities due to defective transport of membrane components in the late endosomal-lysosomal pathway. 5-7 ...

• Mucolipidosis Type IV: an Update - National Center for ...

Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor developmental delay, progressive visual impairment, and achlorydria. It is characterized by the presence of ...

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★リンクテーブル★

リンク元	「ムコリピドーシスIV型」「mucolipidosis type II」「mucolipidosis type I」「ムコ脂質症IV型」
関連記事	「type」「I」「IV」「typed」「typing」

「ムコリピドーシスIV型」

　　[★]

英

mucolipidosis type IV、mucolipidosis IV

関

I細胞病、ムコリピドーシス、シアリドーシス、ムコ脂質症IV型、ムコ脂質症I型、ムコリピドーシスI型、ムコ脂質症II型、ムコリピドーシスII型、ムコ脂質症III型、ムコリピドーシスIII型、偽性ハーラー・・リジストロフィー、さくらんぼ赤色斑ミオクローヌス症候群、ムコリピド症

「mucolipidosis type II」

　　[★]

ムコリピドーシスII型、ムコ脂質症II型

関

cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type I、mucolipidosis type III、mucolipidosis type IV、pseudo-Hurler polydystrophy、sialidosis

「mucolipidosis type I」

　　[★]

ムコリピドーシスI型、ムコ脂質症I型

関

cherry red spot myoclonus syndrome、I-cell disease、mucolipidosis、mucolipidosis I、mucolipidosis II、mucolipidosis III、mucolipidosis IV、mucolipidosis type II、mucolipidosis type III、mucolipidosis type IV、pseudo-Hurler polydystrophy、sialidosis

「ムコ脂質症IV型」

　　[★]

英

mucolipidosis type IV

関

ムコリピドーシスIV型

「type」

　　[★]

• n.

• 型、タイプ、(生物)タイプ標本

(windows)ファイル内容表示(linux -> cat])

ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html

関

form、mode、pattern、type specimen、typed

　 　 　 　 　 　 　 　

「I」

　　[★]

• イソロイシン isoleucine
• イノシン inosine
• 阻害剤 inhibitor
• iodine
• ヨード iodide
• I因子 factor I

　 　 　

「IV」

　　[★]

• adj.

• 静脈内の

関

i.v.、intravascular、intravenous、intravenously

「typed」

　　[★]

• adj.

• 型の

関

form、mode、pattern、type

「typing」

　　[★]

• n.

• タイプで打つこと、タイピング。分類