CC BY
13
3APABOOXPAHEHHE B OB^ECTBE
Salomov Sh.N. student
Andijan State Medical Institute CURRENT FREQUENCY AND ETIOLOGY OF MELAS SYNDROME
Abstract. Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) condition is an interesting hereditary mitochondrial problem that influences the body's capacity to deliver energy. This article will look at the ongoing comprehension of the recurrence of melas disorder and investigate the hereditary causes and etiology of this condition.
Keywords: syndromes, signs, diseases, investigation, MELAS, determinations, levels, potential treatments.
Introduction: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is an uncommon maternally inherited mitochondrial disease that predominantly influences the anxious gadget and muscles. MELAS normally seems in childhood after a duration of everyday early development. This situation manifests with recurrent episodes of encephalopathy, myopathy, headache, and focal neurological deficits in teenagers or younger adults, typically between a long time of two and 15. An extraordinary characteristic of the syndrome is the incidence of stroke-like episodes main to hemiparesis, hemianopia, or cortical blindness.
Objectives:
-Screen in danger people, like those with a family ancestry, for potential mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) condition, using proper symptomatic devices.
-Survey the hereditary premise of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) condition, explicitly perceiving the m.3243A>G and m.3271T>C varieties.
-Select suitable analytic tests, including hereditary examinations and imaging, to affirm the analysis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) condition.
-Work together with interprofessional colleagues, including physical and word related specialists and social laborers, to actually speak with patients and their families about the analysis, guess, and accessible administration choices for mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) condition.
Etiology: MELAS is a mitochondrial acquired hereditary confusion brought about by changes in mitochondrial DNA. Fatherly mitochondria are available just in the rear end of sperm, which demonstrates that mitochondrial
legacy is maternal. Maternally acquired mitochondrial messes, including MELAS, result from the deficiency of mitochondria during treatment. In uncommon cases, MELAS might result from an irregular variety without a familial history. Mitochondrial hereditary issues originate from succession varieties that disable mitochondrial capability, including oxidative phosphorylation (OXPHOS) and energy creation [1,2,3].
Specialists accept that changes in tRNA cause disability of protein gathering into respiratory chain buildings in patients with MELAS. Nonetheless, the specific systems stay muddled. Mitochondria are the force to be reckoned with of cells, and any mitochondrial issue will influence the most metabolically dynamic organs of the body, particularly the cerebrum, eyes, heart, and skeletal muscles.
Labaratory Testing: Research facility testing for MELAS includes surveying serum lactic corrosive, serum pyruvic corrosive, cerebrospinal liquid (CSF) lactic corrosive, and CSF pyruvic corrosive.
A raised lactate level is often the underlying marker in diagnosing MELAS during an intense stroke-like episode. Lactic acidosis prompts clinicians to investigate elective findings, including tissue hypoxic-ischemic injury, hyperglycemia, hypoglycemia, and amino corrosive and unsaturated fat metabolic disorders. [3] Assuming these elective determinations are improbable, evaluating lactic corrosive and pyruvate levels is a powerful evaluating test for recognizing MELAS condition. Outstandingly, lactic acidosis doesn't bring about foundational metabolic acidosis. Furthermore, it is fundamental to perceive that a few impacted patients might display typical serum lactic corrosive levels while showing raised CSF levels.
Expected discoveries incorporate raised blood vessel lactate and pyruvate, raised CSF lactate, significant expansions in lactate and pyruvate levels with work out, and a possibly raised lactate-to-pyruvate proportion. The raised lactate-to-pyruvate proportion happens close by typical O2 immersions in patients with MELAS disorder. Conversely, patients encountering lactic acidosis because of tissue injury show an expanded proportion related with diminished O2 immersion.
Treatment and Management: In the administration of MELAS condition, there is as of now no treatment accessible that can actually sluggish or stop the movement of the illness.
Arginine and Citrulline
MELAS condition is a mitochondrial acquired hereditary confusion that is essentially influenced by a lack in nitric oxide. Controlling nitric oxide antecedents, like arginine and citrulline, may increment nitric oxide accessibility and diminish the impacts of nitric oxide lack. During an intense stroke-like episode, clinicians might oversee arginine to decrease cerebrum harm because of weakened vasodilation in intracerebral corridors brought about by nitric oxide depletion. [1,6]
Complications
Expected confusions of MELAS are recorded underneath.
-Inability to flourish and short height
-Moderate scholarly disintegration conceivably prompting dementia
-Improvement of mental circumstances like discouragement with maniacal highlights, schizophrenia, or bipolar problem
-Mental imbalance range issues
-Sensorineural hearing misfortune
-Cardiomyopathy causing congestive cardiovascular breakdown
Deterrence and Patient Education
Upon doubt or affirmation of a determination of MELAS, patients and their guardians ought to counsel a geneticist for hereditary directing. Also, it is pivotal to talk about the assessment of other relatives who might be in danger of being impacted. The patient and parental figures need training in regards to the expected movement of the ailment, including overseeing intense neurological occasions, as well as data on movement and likely confusions.
Patients, families, and guardians ought to know about the potential dangers related with cardiomyopathy, nephrotic disorder, hearing misfortune, diabetes, moderate neurological downfall, dementia, and gastrointestinal troubles. Training and backing concerning the significance of keeping up with legitimate hydration and nourishment are critical. Besides, it is fundamental to lay out clear and sensible assumptions about the forecast. Medical care experts can likewise give significant help by examining and offering data about continuous clinical preliminaries.
Conclusion
In synopsis, momentum research gauges MELAS disorder has a commonness of roughly 1 of every 30,000 to 1 out of 100,000 people around the world. The condition is basically brought about by a typical change in mitochondrial tRNA qualities, however more extraordinary mtDNA transformations and improvements can likewise set off MELAS. Understanding the hereditary underpinnings of this problem gives knowledge into sickness systems and pathogenesis. Proceeded with epidemiological observation and examination of genotype-aggregate connections will help further explain the recurrence and etiology of MELAS condition.
References:
1. Sinnecker T, Andelova M, Mayr M, Ruegg S, Sinnreich M, Hench J, Frank S, Schaller A, Stippich C, Wuerfel J, Bonati LH. Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes - a case report. BMC Neurol. 2019 May 08;19(1):91.
2. Bhatia KD, Krishnan P, Kortman H, Klostranec J, Krings T. Acute Cortical Lesions in MELAS Syndrome: Anatomic Distribution, Symmetry, and Evolution. AJNR Am J Neuroradiol. 2020 Jan;41(1): 167-173.
3. El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12.
4. Molnar MJ, Valikovics A, Molnar S, Tron L, Dioszeghy P, Mechler F, Gulyas B. Cerebral blood flow and glucose metabolism in mitochondrial disorders. Neurology. 2000 Aug 22;55(4):544-8.
5. Iizuka T, Sakai F. Pathogenesis of stroke-like episodes in MELAS: analysis of neurovascular cellular mechanisms. Curr Neurovasc Res. 2005 Jan;2(1):29-45.
6. Koga Y, Povalko N, Inoue E, Nakamura H, Ishii A, Suzuki Y, Yoneda M, Kanda F, Kubota M, Okada H, Fujii K. Therapeutic regimen of L-arginine for MELAS: 9-year, prospective, multicenter, clinical research. J Neurol. 2018 Dec;265(12):2861-2874.
