Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes malady

Genetics Home Reference: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).¹⁷

MalaCards: Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes, also known as melas syndrome, is related to melas syndrome and lactic acidosis. An important gene associated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes is MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Parkinsons disease. The compounds rotenone and nadh have been mentioned in the context of this disorder. Affiliated tissues include brain and pituitary.

NIH Rare Diseases: Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms of this disorder typically appear in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are contained in mitochondrial DNA. MELAS is inherited from the mother because only females pass mitochondrial DNA to their children. In some cases, MELAS results from a new mutation that was not inherited from a person's mother.³⁰

mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 30 melas syndrome 30 17 43 melas 30 17 mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes 17

myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke 17 mitochondrial encephalomyopathies 43 myopathy 43

Diseases related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes by text searches and GeneDecks gene sharing:

(show top 50)    (show all 375)

id	Related Disease	Score	Top Affiliating Genes
1	melas syndrome	35.9	MT-TL1, MT-ND5
2	lactic acidosis	31.7	MT-ND5, MT-ND4, MT-ND1, GHRH
3	mitochondrial encephalomyopathy	31.4	MT-ND6, MT-ND1, MT-ND4, MT-TL1, MT-TK
4	merrf/melas overlap syndrome	30.1	MT-TL1, MT-TK
5	dementia	29.6	GHRH, GH1, MT-ND1, MT-ND5
6	encephalomyopathy	28.7	MT-ND5, MT-TK, GHRH, GH1, MELAS, MT-ND6
7	parkinson's disease	28.0	MT-ND5, MT-ND1, GHRH
8	myotonic dystrophy	27.9	MT-ND5, GH1, GHRH
9	myopathy	27.1	GHRH, GH1, MT-ND6, MT-TL1, MT-TK, MT-ND5
10	merrf syndrome	27.0	MT-ND5, MT-TK
11	kearns-sayre syndrome	26.7	MT-ND5, MT-ND6
12	seizures	25.5	GHRH, MT-ND6, MT-ND1, MT-ND4, MT-ND5
13	spasticity	25.1	MT-ND4, MT-ND1, MT-ND6
14	diabetes mellitus	25.0	GHRH, GH1, MT-ND1, MT-ND4, MT-TL1, MT-ND5
15	lipodystrophy	25.0	MT-ND6, GH1, GHRH
16	hearing loss	24.9	MT-ND6, MT-ND1, MT-TL1, MT-TK, MT-ND5
17	leber hereditary optic neuropathy	24.8	MT-ND6, MT-ND1, MT-ND4, MT-ND5
18	neuropathy	24.5	MT-ND5, MT-ND4, MT-ND1, MT-ND6
19	retinitis	22.2	GH1, MT-ND6, MT-ND1, MT-ND4, MT-ND5
20	fetal adenoma	13.0	GH1, GHRH
21	somatotrophinoma	13.0	GHRH, GH1
22	vipoma	13.0	GH1, GHRH
23	growth disorders	13.0	GHRH, GH1
24	isolated growth hormone deficiency	12.9	GH1, GHRH
25	pituitary hypoplasia	12.9	GHRH, GH1
26	adrenal gland hyperfunction	12.9	GH1, GHRH
27	neuroectodermal endocrine syndrome	12.9	GH1, GHRH
28	glucagonoma	12.9	GH1, GHRH
29	pseudohypoparathyroidism	12.9	GHRH, GH1
30	fibrous dysplasia	12.8	GHRH, GH1
31	21-hydroxylase deficiency	12.7	GH1, GHRH
32	myoclonus epilepsy	12.7	MT-ND5, MT-TK
33	olivopontocerebellar atrophy	12.6	MT-TK, MT-TL1, MT-ND1
34	leber hereditary optic neuropathy with dystonia	12.6	MT-ND6, MT-ND4
35	familial dystonia	12.5	MT-ND4, MT-ND6
36	optic nerve disease	12.5	MT-ND4, MT-ND6
37	hyperprolactinemia	12.5	GHRH, GH1
38	hypopituitarism	12.3	GH1, GHRH
39	sensorineural hearing loss	12.3	MT-ND6, MT-TL1, MT-ND5
40	mitochondrial complex i deficiency	12.2	MT-ND6, MT-ND1, MT-ND5
41	hereditary neuropathies	12.0	MT-ND6, MT-ND1, MT-ND4
42	open-angle glaucoma	12.0	MT-ND4, MT-ND1, MT-ND6
43	leigh disease	11.9	MT-ND5, MT-ND4, MT-ND6
44	type 2 diabetes mellitus	11.9	GH1, MT-ND1, MT-TL1, MT-ND5
45	galactosemia	11.5	MT-ND5, MT-ND6, GH1, GHRH
46	cortical blindness	11.4	MT-ND5, MT-ND4, MT-ND1, MT-ND6
47	optic atrophy	11.4	MT-ND5, MT-ND4, MT-ND1, MT-ND6
48	optic neuritis	11.0	MT-ND5, MT-ND4, MT-ND1, MT-ND6, GHRH
49	neuritis	11.0	GHRH, MT-ND6, MT-ND1, MT-ND4, MT-ND5
50	blindness	10.9	GH1, MT-ND6, MT-ND1, MT-ND4, MT-ND5

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes:

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Articles related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes:

id	Title	Authors	Year	Affiliating Genes
1	Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. (16645216)	Fan H.... Farber R.A.	2006	MT-TL1, MT-TK
2	Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) associated with hypothalamo-pituitary hypofunctio n--a case report (2060243)	Ishii A.... Kanazawa I.	1991	GH1, GHRH

Genes related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	MELAS	mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes	11.1	Aliases & Descriptions
2	MT-TK	mitochondrially encoded tRNA lysine	11.1	Publications
3	MT-TL1	mitochondrially encoded tRNA leucine 1 (UUA/G)	11.1	Publications
4	GHRH	growth hormone releasing hormone	11.1	Publications
5	GH1	growth hormone 1	11.1	Publications

Pathways related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.38	INF	, , ,
2	Parkinsons disease20	INF	, , ,
3	Oxidative phosphorylation20	INF	, , ,

Compounds related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes according to GeneDecks:

(show all 19)

id	Compound	Score	Top Affiliating Genes
1	rotenone32	INF	,
2	nadh32 9 18 9	INF	, , ,
3	valine32	INF	, , ,
4	ghrp32	9.4	GH1, GHRH
5	pyridostigmine32 9 9	11.4	GHRH, GH1
6	hexarelin32	9.4	GHRH, GH1
7	acipimox32	9.4	GH1, GHRH
8	lanreotide32	9.4	GH1, GHRH
9	pegvisomant32 9 9	11.4	GH1, GHRH
10	pirenzepine32 9 9	11.4	GHRH, GH1
11	naltrexone32 34 9 9	12.4	GHRH, GH1
12	sumatriptan32 34 9 18 9	13.3	GH1, GHRH
13	salbutamol32 34 9 18 9	13.3	GHRH, GH1
14	naloxone32 34 9 9	12.1	GHRH, GH1
15	clonidine32 9 9	11.1	GHRH, GH1
16	bromocriptine32 9 9	11.0	GHRH, GH1
17	serine32	INF	GHRH, , GH1, ,
18	methionine32	INF	, ,
19	alanine32	INF	, , , GH1

Biological processes related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of multicellular organism growth	GO:040018	9.1	GH1, GHRH
2	positive regulation of insulin-like growth factor receptor signaling pathway	GO:043568	8.8	GH1, GHRH